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<div><div class="rprt rprt-lab clearfix"><div class="rprt_header"><h1 class="margin_t0" data-lab-id="500068" data-lab-name="Mayo Clinic Laboratories" id="lab-info">Mayo Clinic Laboratories</h1></div><div class="lab-page-header lab_box_bd"><div class="col six_col"><ul class="std_list"><li>Mayo Clinic Laboratories, MCL</li><li>Mayo Clinic (MAYO)</li><li>Department: Department of Laboratory Medicine and Pathology</li><li class="margin_t1">3050 Superior Drive NW</li><li>Rochester, Minnesota, United States 55901</li><li>Phone: 1-800-533-1710<br /><br />Online Contact: <a href="https://www.mayocliniclabs.com/">https://www.mayocliniclabs.com/</a></li><li>Website: <a class="external-link" href="https://www.mayocliniclabs.com/" target="_blank">https://www.mayocliniclabs.com/</a></li></ul></div><div class="col six_col"><ul class="std_list has_icon_in_li"><li><span class="ui-icon icon-myncbi"></span><a href="/clinvar/submitters/500068/.">Submissions in ClinVar</a></li><li><span class="ui-icon icon-myncbi"></span><span class="rm-lab-extra-msg hide">This is one of your preferred labs. </span><a href="#" id="myncbi-add-remove" data-action="add" data-text-for-add="Add to preferred labs" data-text-for-remove="Remove it">Add to preferred labs</a><span class="rm-lab-extra-msg hide">, <a href="/myncbi/preferences/" class="see-all-pref-labs rm-lab-extra-msg">See all preferred labs</a></span></li></ul><p class="gtr-lab-id">GTR Lab ID: 500068, Last updated:2025-01-09</p></div></div><div style="clear:both"></div><div class="col six_col" id="lab_col1"><div class="box"><h2>Personnel</h2><div class="lab_box_bd"><ul class="li_magin_t1 personal_list"><li><strong>Director: </strong>William Morice, PhD, MD, Lab Director<br />Phone: 1-800-533-1710<br /></li><li>Cassandra Runke, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Fax: 507-538-4158<br />Email: <a href="mailto:biochemicalgenetics@mayo.edu" target="_blank">biochemicalgenetics@mayo.edu</a></li><li>Jessica Bortnova, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Sarah Brunker, PhD, MS, MPH, Genetic Counselor<br />Phone: 1-800-533-1710<br />Fax: 507-284-5115<br />Email: <a href="mailto:rstgchemepath@mayo.edu" target="_blank">rstgchemepath@mayo.edu</a></li><li>Huong Cabral, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Megan Hoenig, MS, MPH, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Megan Holdren, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Michelle Kluge, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Fax: 507-284-0670<br />Email: <a href="mailto:rstgccbi@mayo.edu" target="_blank">rstgccbi@mayo.edu</a></li><li>Emily Lauer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Fax: 507-284-0670<br />Email: <a href="mailto:gcmolgen@mayo.edu" target="_blank">gcmolgen@mayo.edu</a></li><li>Elyse Love, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Fax: 507-284-0670<br />Email: <a href="mailto:gcmolgen@mayo.edu" target="_blank">gcmolgen@mayo.edu</a></li><li>Tavanna Porter, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Elizabeth Selner, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 800-533-1710<br />Email: <a href="mailto:gcmolgen@mayo.edu" target="_blank">gcmolgen@mayo.edu</a></li><li>Emily Thoreson, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li><li>Samantha Wiley, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Email: <a href="mailto:wiley.samantha@mayo.edu" target="_blank">wiley.samantha@mayo.edu</a></li><li>Antonina Wojcik, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 1-800-533-1710<br />Email: <a href="mailto:GCMolgen@mayo.edu" target="_blank">GCMolgen@mayo.edu</a></li></ul></div></div></div><div class="col six_col last" id="lab_col2"><div class="box"><h2 id="conditions-tests">Conditions and tests</h2><div class="lab_box_bd"><form name="filter_ds" id="filter_ds"><ul><li><strong><a href="/gtr/conditions/?from_lab_id=500068" ref="ncbi_uid=500068">1245 conditions/phenotypes</a></strong><strong> with <a href="/gtr/tests/?term=500068[ORGID]" ref="ncbi_uid=500068">344 tests</a></strong></li><li class="filter_holder"><label class="ui-helper-hidden-accessible" for="filter_name">Enter text to narrow down the list</label><input class="text text_small" id="filter_name" name="filter_name" placeholder="Enter text to narrow down the list" type="text" value="" /></li></ul><ul class="li_magin_t1 " id="condition_list"><li><strong>2-hydroxyglutaric aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2746066[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>3-Methylglutaconic aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3696376[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>3-Methylglutaconic aciduria type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0574083[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>3-methylglutaconic aciduria type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857776[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>3-methylglutaconic aciduria, type VIIA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676967[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>3-methylglutaconic aciduria, type VIIB</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676893[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>46,xx gonadal dysgenesis, complete, sry-positive</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN220534[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>46,XX testicular disorder of sex development</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936419[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Abacavir hypersensitivity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840547[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Abetalipoproteinaemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0000744[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Acid sphingomyelinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5243927[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Acrodysostosis with multiple hormone resistance</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN274488[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Acromicric dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265287[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Activated PI3K-delta syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN295305[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Acute febrile neutrophilic dermatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085077[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Acute intermittent porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162565[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li><strong>Acute myeloid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023467[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Adams-Oliver syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265268[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Adenine phosphoribosyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Adrenoleukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162309[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Adrenomyeloneuropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1527231[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Adult hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268413[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Adult Krabbe disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268252[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4511138[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Agammaglobulinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001768[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Agammaglobulinemia 2, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150750[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Agammaglobulinemia 3, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150751[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Agammaglobulinemia 4, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150752[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Agammaglobulinemia 6, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150207[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Agammaglobulinemia 7, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554689[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Agammaglobulinemia 8, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310786[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Agammaglobulinemia 8b, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676958[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Aganglionic megacolon</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019569[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi Goutieres syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393591[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Aicardi-Goutieres syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796126[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi-Goutieres syndrome 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150315[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Aicardi-Goutieres syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3489724[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi-Goutieres syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835916[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Aicardi-Goutieres syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835912[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi-Goutieres syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749659[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Aicardi-Goutieres syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3539013[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi-Goutieres syndrome 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888244[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Aicardi-Goutieres syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5551352[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aicardi-Goutieres syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561966[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Alagille syndrome due to a JAG1 point mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1956125[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Alagille syndrome due to a NOTCH2 point mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857761[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>ALG1-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931005[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Alkaptonuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002066[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Allopurinol response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN160494[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Alpha-1-antitrypsin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221757[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>ALPI-related inflammatory bowel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681586[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Alport syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1567741[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Alstrom syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268425[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Alzheimer disease 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863051[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ambiguous genitalia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266362[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Amelogenesis imperfecta type 1G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931783[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Amyloidosis, hereditary systemic 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751492[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002736[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Amyotrophic lateral sclerosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862939[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic neuralgia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834304[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Anauxetic dysplasia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551965[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Andersen Tawil syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1563715[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2720289[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Angelman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162635[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Angelman syndrome due to paternal uniparental disomy of chromosome 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680342[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Anomaly of sex chromosome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0036868[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Antenatal Bartter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN239220[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Aplastic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002874[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Arginine:glycine amidinotransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675179[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN280864[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854063[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349788[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>Arterial tortuosity syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859726[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>ARYLSULFATASE A PSEUDODEFICIENCY</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017091[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Asperger syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0236792[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ataxia-pancytopenia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327919[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ataxia-telangiectasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004135[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Atazanavir response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN417141[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Athabaskan severe combined immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865371[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Atomoxetine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077956[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Atorvastatin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077961[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004238[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>Atypical hemolytic-uremic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931788[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752036[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autism spectrum disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1510586[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autoimmune disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004364[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoimmune disease, multisystem, infantile-onset</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN238808[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autoimmune disease, multisystem, infantile-onset, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310768[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279990[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Autoimmune interstitial lung disease-arthritis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5243948[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN301239[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015214[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1328840[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome type 1, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866121[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858968[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846545[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome, type 1a</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866119[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809928[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Autoimmune polyglandular syndrome type 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855869[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749602[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autoinflammation with arthritis and dyskeratosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479278[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoinflammation with episodic fever and lymphadenopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394286[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Autoinflammation, immune dysregulation, and eosinophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436572[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553961[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Autoinflammatory disease, systemic, with vasculitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5830525[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autoinflammatory disease, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676885[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autoinflammatory syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3890737[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autoinflammatory syndrome, familial, Behcet-like</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN234876[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autoinflammatory syndrome, familial, Behcet-like 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225218[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676977[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal chromosomal disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0969687[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Autosomal dominant distal myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680803[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant hypocalcemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4048195[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autosomal dominant hypocalcemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809243[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant medullary cystic kidney disease with or without hyperuricemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4511620[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autosomal dominant polycystic kidney disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085413[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant polycystic liver disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0158683[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autosomal recessive agammaglobulinemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3152144[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive dyskeratosis congenita 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151444[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autosomal recessive familial Mediterranean fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN293506[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive polycystic kidney disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085548[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autosomal recessive severe congenital neutropenia due to CSF3R deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310764[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751630[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014954[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive spinocerebellar ataxia 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4706415[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Autosomal systemic lupus erythematosus type 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280742[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Autosomal uniparental disomy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681500[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Azathioprine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077959[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Azorean disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024408[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>B-cell immunodeficiency, distal limb anomalies, and urogenital malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836437[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>BAP1-related tumor predisposition syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280492[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Baraitser-Winter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853623[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Bare lymphocyte syndrome type 2, complementation group A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859534[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Bartter disease type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866495[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Bartter disease type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855849[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bartter disease type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846343[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Bartter disease type 4A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865270[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bartter disease type 4B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310805[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Bartter disease type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310820[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bartter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004775[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Bartter syndrome with hypocalcemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3715128[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Batten-Turner congenital myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027127[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Becker muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0917713[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Beckwith-Wiedemann syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004903[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Belinostat response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN282543[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>BENTA disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551967[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Berardinelli-Seip congenital lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262437[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Beta-thalassemia and related diseases</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680748[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Bethlem myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834674[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bile acid malabsorption, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561934[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Bile acid malabsorption, primary, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561962[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Biotinidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220754[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Birt-Hogg-Dube syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0346010[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Blau syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5201146[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Blepharophimosis - intellectual disability syndrome, Ohdo type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796094[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bone marrow failure syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310744[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Branchial arch or oral-acral syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680620[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Breast cancer, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469522[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Brittle cornea syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN263128[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Bruck syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432253[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Brugada syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1142166[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Bupropion response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN227912[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>C1Q deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150902[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>C1Q deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5830422[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>C1Q deficiency 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5830423[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Candidiasis, familial, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151405[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Candidiasis, familial, 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714992[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Candidiasis, familial, 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225324[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Capecitabine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077963[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Capillary malformation-arteriovenous malformation syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842180[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>CARASIL syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838577[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Carbamazepine hypersensitivity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3277286[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Carbamazepine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077964[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Carcinoid syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024586[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Cardiac arrhythmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003811[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">9 tests</a></span></li><li><strong>Cardiac valvular dysplasia, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0262436[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Cardiofaciocutaneous syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN029449[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Cardiofaciocutaneous syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809005[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Cardiofaciocutaneous syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809006[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Cardiofaciocutaneous syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809007[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878544[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li><strong>Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014393[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Carney complex</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406810[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Carnitine acylcarnitine translocase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342791[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Carnitine palmitoyl transferase II deficiency, severe infantile form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833511[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Carnitine palmitoyltransferase II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342790[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Catechol-o-methyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN235212[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Catecholaminergic polymorphic ventricular tachycardia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1631597[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Cerebral amyloid angiopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085220[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551768[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751587[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cerebral cavernous malformation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2919945[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552029[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cerebroretinal microangiopathy with calcifications and cysts 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479220[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cernunnos-XLF deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969799[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Char syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868570[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007959[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease, type IA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0270911[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>CHARGE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265354[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Chilblain lupus 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024145[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Childhood hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220743[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Childhood onset GLUT1 deficiency syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842534[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Childhood-onset cerebral X-linked adrenoleukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN036464[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Chlorpropamide response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN427423[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cholangiocarcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206698[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cholestanol storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238052[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Cholestasis, progressive familial intrahepatic, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931067[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cholestasis, progressive familial intrahepatic, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310747[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cholesteryl ester storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008384[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Chondrodysplasia punctata 2 X-linked dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282102[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Chromosome 22q11.2 microduplication syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675369[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Chronic granulomatous disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0018203[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Chronic infantile neurological, cutaneous and articular syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0409818[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Chylomicron retention disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795956[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Chylomicronemia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1274228[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Chédiak-Higashi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007965[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Citalopram response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221263[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936858[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Classic homocystinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751202[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Clopidogrel response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674941[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Coats plus syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677299[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Codeine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837160[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Coenzyme Q10 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843920[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Coenzyme Q10 deficiency, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3551954[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cohen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265223[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>COL4A1 or COL4A2-related cerebral small vessel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680103[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Cold-induced sweating syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848947[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Cold-induced sweating syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853198[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cole-Carpenter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862178[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Colon cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007102[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Colorectal / endometrial cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221548[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Colorectal cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0346629[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2711630[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540434[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to CD3gamma deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810107[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Combined immunodeficiency due to DOCK8 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4722305[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to GINS1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568132[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Combined immunodeficiency due to LRBA deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553512[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to MALT1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809583[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748568[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to partial RAG1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835931[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Combined immunodeficiency due to POLE2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN322453[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to STIM1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748557[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Combined immunodeficiency due to STK4 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553943[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency with faciooculoskeletal anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750068[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Combined immunodeficiency, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN030319[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Combined molybdoflavoprotein enzyme deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268119[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Combined oxidative phosphorylation defect type 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809526[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Combined oxidative phosphorylation deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540031[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Common variable immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0009447[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Complement 3 glomerulopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5690882[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Complement component 2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150275[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Complement component C1r/C1s deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150274[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Complement component C1s deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151078[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Complete trisomy 13 syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152095[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Complete trisomy 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152096[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Complex lethal osteochondrodysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225162[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Complex V deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342779[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Comprehensive testing for inherited renal disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN580793[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital adrenal hyperplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001627[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751320[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital chromosomal disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008626[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Congenital contractural arachnodactyly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220668[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Congenital diarrhea</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN232319[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital diarrhea 5 with tufting enteropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750737[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital diarrhea 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553270[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital diarrhea 7 with exudative enteropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014516[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282577[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Congenital disorder of glycosylation type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574948[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital disorder of glycosylation, type ICC</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231393[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Congenital disorder of glycosylation, type IIw</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561986[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Congenital dyserythropoietic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002876[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Congenital dyserythropoietic anemia type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150926[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital dyserythropoietic anemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271933[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital dyserythropoietic anemia, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1306589[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital generalized lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221032[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital glucose-galactose malabsorption</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268186[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital heart disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152021[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">9 tests</a></span></li><li class="bg_blue"><strong>Congenital lactase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268179[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital long QT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1141890[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li class="bg_blue"><strong>Congenital malabsorptive diarrhea 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835888[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital microvillous atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0341306[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital muscular dystrophy due to LMNA mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750785[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Congenital myasthenic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751882[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340970[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Congenital neutropenia-myelofibrosis-nephromegaly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809031[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital nonspherocytic hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002882[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Congenital secretory diarrhea, chloride type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0267662[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital secretory sodium diarrhea 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5441928[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Congenital sensory neuropathy with selective loss of small myelinated fibers</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020075[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Congenital short bowel syndrome, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3806579[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015172[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Congenital sodium diarrhea</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0267663[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Conotruncal heart malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857586[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808876[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Coronary artery disease, autosomal dominant 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970440[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Costello syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0587248[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Cranioectodermal dysplasia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150874[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Creatine transporter deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845862[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Crigler-Najjar syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5551003[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Crigler-Najjar syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010324[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Crigler-Najjar syndrome, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931132[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Cutaneous porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5886774[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Cutis laxa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010495[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Cystic fibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010674[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Cystinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010691[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>D,L-2-hydroxyglutaric aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574940[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>D-2-hydroxyglutaric aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833429[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>D-2-hydroxyglutaric aciduria 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3152055[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>D-2-hydroxyglutaric aciduria 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150909[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Danon disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878677[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Deafness-lymphedema-leukemia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279664[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Deficiency of alpha-mannosidase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024748[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Deficiency of guanidinoacetate methyltransferase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0574080[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Deficiency of isobutyryl-CoA dehydrogenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969809[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Deficiency of mevalonate kinase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342731[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Deficiency of ribose-5-phosphate isomerase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291609[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Deficiency of steroid 11-beta-monooxygenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268292[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of transaldolase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291329[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Delayed puberty</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0034012[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>delta Thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271990[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Dent disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878681[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Dent disease type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845167[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dentatorubral-pallidoluysian atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751781[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Desmosterolosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865596[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Diamond-Blackfan anemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676137[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Diaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0011989[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Diarrhea 10, protein-losing enteropathy type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748579[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Diarrhea 12, with microvillus atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561942[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Diffuse interstitial pulmonary fibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721507[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>DiGeorge syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0012236[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Dihydropyrimidine dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959620[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 3B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3668940[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Disorder of fatty acid metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268634[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Disorder of fatty acid oxidation and ketogenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681071[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Disorder of galactose metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342745[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Disorder of ketone body transport</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681184[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Disorder of organic acid metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1263739[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Disorder of phenylalanine metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268461[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Disorder of protein N-glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681044[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Disorder of sialic acid metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342851[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Disorder of the urea cycle metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0154246[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Disorder of tyrosine metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268482[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Distal renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1704380[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Distal weakness</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN296802[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dizygotic twins</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220761[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>DK1-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835849[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>DNA ligase IV deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847827[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>DOCK2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225328[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dominant beta-thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858990[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Down syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013080[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Drash syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0950121[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Drug metabolism or response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN253927[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">16 tests</a></span></li><li><strong>Duchenne and Becker muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542021[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Duchenne muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013264[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Dyskeratosis congenita</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265965[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551974[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dyskeratosis congenita, autosomal dominant 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151443[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151445[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dyskeratosis congenita, autosomal dominant 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808802[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225284[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857144[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal recessive 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151441[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151442[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal recessive 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554656[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225356[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal recessive 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225283[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Dyskeratosis congenita, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1148551[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Dyssynergia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004134[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ectodermal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013575[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ectodermal dysplasia and immune deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846006[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Ectodermal dysplasia and immunodeficiency 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846008[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ectodermal dysplasia and immunodeficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677481[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ectodermal dysplasia, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN069564[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ectopia lentis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013581[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Efavirenz response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281153[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013720[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Ehlers-Danlos syndrome due to tenascin-X deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848029[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, arthrochalasia type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551623[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, cardiac valvular type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4303789[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, classic type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225429[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693870[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, dermatosparaxis type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2700425[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866294[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, periodontal type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310681[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome, periodontitis type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268347[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268338[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Ehlers-Danlos/osteogenesis imperfecta syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518787[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Elliptocytosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678497[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Elliptocytosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851741[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Elliptocytosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866810[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Emery-Dreifuss muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410189[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Emery-Dreifuss muscular dystrophy 1, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5243475[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Encephalitis, acute, infection (viral)-induced, susceptibility to, 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561941[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281106[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Encephalopathy, acute, infection-induced</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN236791[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Epidermodysplasia verruciformis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0014522[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Epidermodysplasia verruciformis, susceptibility to, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748876[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa dystrophica</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079294[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Epidermolysis bullosa pruriginosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275114[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518785[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Epilepsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0014544[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Episodic pain syndrome, familial, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809893[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Erythrocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1527405[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Erythropoietic protoporphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162568[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Escitalopram response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221264[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Ethylmalonic encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865349[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Fabry disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002986[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">14 tests</a></span></li><li class="bg_blue"><strong>Facioscapulohumeral muscular dystrophy 4, digenic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561960[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>FADD-related immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151062[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Familial amyloid nephropathy with urticaria AND deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268390[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial aortopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN078214[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Familial apolipoprotein C-II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720779[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0264789[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li class="bg_blue"><strong>Familial chilblain lupus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5688224[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial chylomicronemia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5442313[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial cold autoinflammatory syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0343068[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Familial cold autoinflammatory syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551895[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial cold autoinflammatory syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673198[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial cold autoinflammatory syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280914[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Familial cold autoinflammatory syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015276[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial dysautonomia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013364[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial episodic pain syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5190598[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial episodic pain syndrome with predominantly lower limb involvement</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809899[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial episodic pain syndrome with predominantly upper body involvement</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808667[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial erythrocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152264[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial hemiplegic migraine</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0338484[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272199[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863727[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837174[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Familial hemophagocytic lymphohistiocytosis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863728[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751293[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Familial hyperaldosteronism type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3838758[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial hypercholesterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020445[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Familial hyperreninemic hypoaldosteronism type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846990[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial hypobetalipoproteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862596[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Familial hypocalciuric hypercalcemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1809471[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Familial hypocalciuric hypercalcemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342637[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial hypocalciuric hypercalcemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840347[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial hypocalciuric hypercalcemia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833372[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial hypokalemia-hypomagnesemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268450[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial idiopathic steroid-resistant nephrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4273714[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial intrahepatic cholestasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN296401[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial isolated dilated cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679590[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Familial juvenile gout</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268113[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Familial Mediterranean fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031069[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Familial Mediterranean fever, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851347[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Familial pancreatic carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931038[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial partial lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271694[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial Periodic Fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN239390[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial prostate cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931456[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Familial renal hypouricemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551590[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Familial thoracic aortic aneurysm and aortic dissection</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4707243[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Familial type 3 hyperlipoproteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020479[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Fanconi anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015625[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014962[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Farber lipogranulomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268255[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Fatty acyl-CoA reductase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015344[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Fibrous dysplasia of jaw</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008029[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Fish-eye disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342895[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Fluoropyrimidine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN184090[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Fluorouracil response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077983[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Fluoxetine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077984[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Fluvoxamine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221254[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Focal segmental glomerulosclerosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017668[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Fragile X syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016667[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Fragile X-associated tremor/ataxia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839780[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Friedreich ataxia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016719[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Friedreich ataxia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856689[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Friedreich ataxia with retained reflexes</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847416[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Frontometaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265293[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN239493[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Fucosidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016788[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Fumarase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342770[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Galactosemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016952[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Galactosylceramide beta-galactosidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023521[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Galloway-Mowat syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795949[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Gamma-glutamylcysteine synthetase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856603[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Gastrointestinal defect and immunodeficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5234880[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>GATA binding protein 1 related thrombocytopenia with dyserythropoiesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845837[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>GATA2 deficiency with susceptibility to MDS/AML</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN300066[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Gaucher disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017205[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Geleophysic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3489726[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Generalized pustular psoriasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0343055[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Genetic cardiac rhythm disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681782[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">9 tests</a></span></li><li><strong>Genetic cerebral small vessel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681259[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Gilbert syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017551[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Gilbert syndrome, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016425[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Glibenclamide response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN437679[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glimepiride response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN437678[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017638[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glipizide response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832730[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Global developmental delay</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0557874[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glomerulopathy with fibronectin deposits 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866075[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glomuvenous malformation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1841984[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glucocorticoid-remediable aldosteronism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3838731[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glucose-6-phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268146[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Glutaric acidemia IIa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278154[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glutaric acidemia IIb</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278155[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glutaric acidemia IIc</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278156[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glutaric aciduria, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268595[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Glutathione synthetase deficiency without 5-oxoprolinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856399[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017919[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li><strong>Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2919796[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970848[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Glycogen storage disease IIIa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968739[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IIIb</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968740[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Glycogen storage disease, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017920[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017921[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">11 tests</a></span></li><li><strong>Glycogen storage disease, type VII</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017926[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Gnathodiaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833736[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856245[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151409[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Granulomatous disease, chronic, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844376[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Griscelli syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868679[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436546[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Growth hormone insensitivity with immune dysregulation 1, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435698[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hashimoto thyroiditis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0677607[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hearing loss, autosomal dominant 34, with or without inflammation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4521680[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hematologic disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0018939[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hematologic neoplasm</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0376545[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Heme oxygenase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1841651[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002878[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hemolytic anemia due to adenylate kinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675459[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to glucophosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150730[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hemolytic anemia due to glutathione reductase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231513[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to hexokinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150343[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849507[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hepatic methionine adenosyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268621[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hepatitis B virus, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864880[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hepatitis C virus infection, response to therapy of</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750389[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hepatoerythropoietic porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162569[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hereditary acrodermatitis enteropathica</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221036[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary acrokeratotic poikiloderma, Weary type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406556[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary breast and/or gynecological cancer syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN306206[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary breast ovarian cancer syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0677776[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary cancer-predisposing syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027672[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Hereditary coproporphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162531[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Hereditary diffuse gastric adenocarcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1708349[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019247[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Hereditary elliptocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013902[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary endocrine tumor syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN306207[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary factor IX deficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008533[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary gastrointestinal cancer and/or polyposis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN306205[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary hearing loss and deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0236038[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary hemochromatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0392514[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary hemorrhagic telangiectasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0039445[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hereditary hyperbilirubinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020435[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary insensitivity to pain with anhidrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020074[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary leiomyomatosis and renal cell cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1708350[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary liability to pressure palsies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393814[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4511302[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary motor and sensory neuropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027888[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary neutrophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0543669[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238339[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hereditary Paraganglioma-Pheochromacytoma Syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN882909[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary sensory and autonomic neuropathy type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3539003[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary sensory and autonomic neuropathy type 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809882[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary sensory and autonomic neuropathy with spastic paraplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850395[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary sensory neuropathy-deafness-dementia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279885[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spastic paraplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0037773[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary spherocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0037889[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674218[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary spherocytosis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674219[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678338[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary spherocytosis type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675212[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675192[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary stomatocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1262483[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary Wilms tumor</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0677779[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hereditary xanthinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5779508[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hereditary xanthinuria type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268118[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Heritable Thoracic Aortic Disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN868256[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079504[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Hermansky-Pudlak syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931875[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310746[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Hermansky-Pudlak syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842362[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888001[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hermansky-Pudlak syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3484357[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888007[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hermansky-Pudlak syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280026[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Herpes simplex encephalitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0276226[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>HNSHA due to aldolase A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272066[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Holt-Oram syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265264[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Homocystinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019880[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Hormone receptor-positive breast cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5442556[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Huntington disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020179[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hutchinson-Gilford syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033300[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hyper-IgE recurrent infection syndrome 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936739[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Hyper-IgE recurrent infection syndrome 3, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748969[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hyper-IgE recurrent infection syndrome 4, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193141[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hyper-IgE recurrent infection syndrome 4A, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676920[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hyper-IgE recurrent infection syndrome 5, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394550[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hyper-IgE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887645[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hyper-IgM syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398689[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Hyper-IgM syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720956[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypercalcemia, infantile, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310232[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypercalcemia, infantile, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310473[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypercalciuria, absorptive, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846573[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hyperimmunoglobulin D with periodic fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398691[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Hyperimmunoglobulin M syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272236[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hyperkalemic periodic paralysis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238357[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hyperlipidemia due to hepatic triglyceride lipase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151466[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hyperlipidemia, familial combined, LPL related</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020474[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hyperlipoproteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020476[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hyperlipoproteinemia, type 1D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014767[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hyperlipoproteinemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023817[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Hyperoxaluria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020500[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypertriglyceridemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5444012[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007194[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Hyperuricemic nephropathy, familial juvenile type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310741[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypobetalipoproteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020597[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 5 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552553[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypokalemic periodic paralysis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238358[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypomagnesemia, seizures, and intellectual disability</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN263093[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypoparathyroidism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020626[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypoparathyroidism, deafness, renal disease syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840333[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020630[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Hypophosphatemic nephrolithiasis/osteoporosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676786[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypophosphatemic nephrolithiasis/osteoporosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676782[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypophosphatemic rickets</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1704375[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Hypouricemia, renal, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677549[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848153[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ichthyosis linearis circumflexa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265962[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>IKBKG-related immunodeficiency with or without ectodermal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN322773[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>IL21-related infantile inflammatory bowel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567788[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>IMAGe syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846009[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Imerslund-Grasbeck syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016819[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immune dysregulation disease with immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680458[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 104</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676890[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Immunodeficiency 106, susceptibility to viral infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5677009[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 109 with lymphoproliferation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5830346[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Immunodeficiency 115 with autoinflammation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5882724[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 11b with atopic dermatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539957[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Immunodeficiency 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714976[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 14b, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543301[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Immunodeficiency 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810127[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810147[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014371[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857798[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 31B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151088[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 33</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970879[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Immunodeficiency 35</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969086[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 36</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014934[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Immunodeficiency 39</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225358[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 45</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225252[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Immunodeficiency 47</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310819[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 49</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310656[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 51</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310803[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 57</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748212[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Immunodeficiency 60</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193072[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 61</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845903[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 63 with lymphoproliferation and autoimmunity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193126[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 64</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231402[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Immunodeficiency 65, susceptibility to viral infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231441[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436549[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436550[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 74, COVID-19-related, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435745[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Immunodeficiency 75</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436860[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 76</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543004[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 78 with autoimmunity and developmental delay</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543159[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 81</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543540[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 83, susceptibility to viral infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751803[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 87 and autoimmunity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5562070[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Immunodeficiency 94 with autoinflammation and dysmorphic facies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676918[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 95</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676929[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency 96</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676930[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 98 with autoinflammation, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676883[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency due to CD25 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853392[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency due to defect in CD3-gamma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861297[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3149378[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809991[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225277[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540380[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150354[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150738[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150739[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150740[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150741[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542922[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency, common variable, due to APRIL deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN322263[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency-centromeric instability-facial anomalies syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551557[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunodeficiency-centromeric instability-facial anomalies syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279748[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency-centromeric instability-facial anomalies syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310799[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Immunoglobulin A deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836032[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Immunoskeletal dysplasia with neurodevelopmental abnormalities</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479452[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Inborn disorder of bile acid synthesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0400973[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Inborn disorder of cobalamin metabolism and transport</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681844[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Inborn disorder of purine or pyrimidine metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0034139[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Inborn errors of metabolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025521[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Inborn mitochondrial myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162670[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Incontinentia pigmenti syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0021171[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Increased HDL cholesterol concentration</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551591[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Infantile hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268412[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Infantile Krabbe disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751273[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Infantile-onset periodic fever-panniculitis-dermatosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310614[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Infertility disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0021359[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Inflammatory bowel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0021390[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Inflammatory bowel disease 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675508[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Inflammatory bowel disease 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751053[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Inflammatory bowel disease, immunodeficiency, and encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748708[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Inflammatory skin and bowel disease, neonatal, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280501[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Inherited renal cancer-predisposing syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680964[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Inherited rippling muscle disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN296487[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Insulin-dependent diabetes mellitus secretory diarrhea syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342288[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Intestinal hypomagnesemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865974[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2746068[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Irinotecan response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077989[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Jervell and Lange-Nielsen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022387[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Joubert syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749019[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Junctional epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079301[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Juvenile arthritis due to defect in LACC1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN263340[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Juvenile myelomonocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349639[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832942[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Kabuki syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN030661[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Kabuki syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275495[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Karyomegalic interstitial nephritis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553774[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Kearns-Sayre syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022541[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Kennedy disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839259[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Keppen-Lubinsky syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279800[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Keratitis fugax hereditaria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835697[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866029[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ketamine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN297080[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Kidney disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022658[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Kindler syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406557[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Klinefelter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022735[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Kostmann syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5235141[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Kyphoscoliotic Ehlers-Danlos syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551497[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>L-2-hydroxyglutaric aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855995[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Larsen-like syndrome, B3GAT3 type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278404[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Late-infantile/juvenile Krabbe disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN200855[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Lateral meningocele syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851710[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lathosterolosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846421[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Lazy leukocyte syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272174[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Left ventricular noncompaction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1960469[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Left ventricular noncompaction cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4021133[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Legius syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969623[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Leigh syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931891[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Leigh Syndrome (mtDNA mutation)</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN230159[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Leigh Syndrome (nuclear DNA mutation)</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN043625[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Leigh syndrome due to mitochondrial complex IV deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850599[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Leigh syndrome due to mitochondrial complex V deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850600[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lesch-Nyhan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023374[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Leukemia, acute myeloid, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275959[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Leukocyte adhesion deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272187[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Leukocyte adhesion deficiency 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398738[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Liddle syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN031472[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Liddle syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748251[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Limb-girdle muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0686353[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Lipase deficiency, combined</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855498[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>LIPE-related familial partial lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014869[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023787[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lipogranulomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1704214[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Loeys-Dietz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2697932[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Loeys-Dietz syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551955[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Loeys-Dietz syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674574[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3711645[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Long QT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023976[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">8 tests</a></span></li><li><strong>Lowe syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028860[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>LRP5-related primary osteoporosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567241[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lung cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0242379[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Lymphoma, non-Hodgkin, familial</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721532[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lymphoproliferative syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552634[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Lymphoproliferative syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554540[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Lynch syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552100[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Lynch syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750471[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Lysinuric protein intolerance</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268647[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Lysosomal acid lipase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574740[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Lysosomal storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085078[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5200934[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225222[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Majeed syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864997[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Malignant hematological disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0348393[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837756[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Maple syrup urine disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024776[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Marfan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024796[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>MASS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858556[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>McLeod neuroacanthocytosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398568[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Meconium ileus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2939175[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220710[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Meester-Loeys syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310811[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Melanoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025202[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>MELAS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162671[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Melnick-Needles syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025237[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>MEND syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4085243[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015293[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4013950[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Menkes kinky-hair syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022716[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Mercaptopurine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077995[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Metabolic myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0270984[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Metachondromatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410530[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Metachromatic leukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023522[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Metaphyseal chondrodysplasia, McKusick type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220748[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Metaphyseal dysplasia without hypotrichosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834821[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Methadone response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221249[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>methadone response - Dosage</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN236536[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Methylmalonic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268583[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855114[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mevalonic aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959626[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>MHC class II deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859535[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>MHC class II deficiency 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859536[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>MHC class II deficiency 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859537[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>MHC class II deficiency 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859538[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Migraine</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0149931[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Miscarriage</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552766[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial complex 4 deficiency, nuclear type 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436694[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial complex I deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838979[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Mitochondrial complex I deficiency, mitochondrial type</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN294790[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial complex II deficiency, nuclear type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5700310[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial complex III deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1852372[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279699[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mitochondrial disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751651[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Mitochondrial disorder due to a defect in mitochondrial protein synthesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4700505[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial DNA Deletion Syndromes</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN043632[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial encephalomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162666[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1852373[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749921[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Mitochondrial myopathy with diabetes</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839028[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193223[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial myopathy, isolated</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016606[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540096[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial neurogastrointestinal encephalomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0872218[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial oxidative phosphorylation disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679825[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679643[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679645[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679644[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mitochondrial trifunctional protein deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969443[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>MOGS-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853736[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Monocytopenia with susceptibility to infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280030[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Monosomy 7 myelodysplasia and leukemia syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854978[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Motor neuron disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085084[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Moyamoya disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026654[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>MPI-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865145[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mucolipidosis type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673377[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Mucopolysaccharidoses, unclassified types</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220752[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026703[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Mucopolysaccharidosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023786[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026709[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Mucopolysaccharidosis type 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085132[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026705[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Mucopolysaccharidosis, MPS-III-A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086647[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-III-B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086648[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Mucopolysaccharidosis, MPS-III-C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086649[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-III-D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086650[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Mucopolysaccharidosis, MPS-IV-A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086651[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-IV-B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086652[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Multiple acyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268596[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Multiple cutaneous and mucosal venous malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838437[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Multiple endocrine neoplasia, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4048306[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Multiple gastrointestinal atresias</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220744[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Multiple self-healing squamous epithelioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0546476[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Multiple sulfatase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268263[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026850[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Muscular dystrophy-dystroglycanopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679911[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Myelodysplastic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3463824[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>MYO5B-related progressive familial intrahepatic cholestasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680100[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Myofibrillar myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678065[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Myopathy with giant abnormal mitochondria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850717[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Myopathy, lactic acidosis, and sideroblastic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838103[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Myopathy, tubular aggregate, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4011726[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Myopathy, tubular aggregate, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014557[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Myosin storage myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842160[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Nail-patella syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027341[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>NARP syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1328349[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Naxos disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832600[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Nemaline myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206157[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Neonatal Marfan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016054[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Neonatal severe primary hyperparathyroidism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832615[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Nephrogenic diabetes insipidus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162283[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Nephrogenic syndrome of inappropriate antidiuresis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845202[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Nephrolithiasis/nephrocalcinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN580796[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Nephronophthisis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0687120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Nephrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027726[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540192[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5779636[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neurohypophyseal diabetes insipidus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342394[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuromuscular disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027868[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027877[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Neuronal ceroid lipofuscinosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850451[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1876161[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Neuronopathy, distal hereditary motor, type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834692[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuronopathy, distal hereditary motor, type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2608087[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuronopathy, distal hereditary motor, type 2D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888271[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuronopathy, distal hereditary motor, type 5A</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN031873[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuronopathy, distal hereditary motor, type 5C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436838[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuronopathy, distal hereditary motor, type 7A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834703[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuronopathy, distal hereditary motor, type 7B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843315[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuropathy, hereditary sensory and autonomic, type 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5235211[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuropathy, hereditary sensory and autonomic, type 1C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150896[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuropathy, hereditary sensory and autonomic, type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752089[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuropathy, hereditary sensory and autonomic, type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751092[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuropathy, hereditary sensory and autonomic, type IId</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4012054[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuropathy, hereditary sensory, type 1D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150972[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neuropathy, hereditary sensory, type 1F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810194[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neuropathy, hereditary sensory, type 2C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280168[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neutropenia, severe congenital, 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859966[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neutropenia, severe congenital, 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751288[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neutropenia, severe congenital, 8, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5203411[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Neutropenia, severe congenital, 9, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676954[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Neutrophil immunodeficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842398[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Nevirapine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN297081[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Nicotine dependence</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028043[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Niemann-Pick disease, type A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268242[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Niemann-Pick disease, type B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268243[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>Niemann-Pick disease, type C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220756[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Nijmegen breakage syndrome-like disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751318[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Nilotinib response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077998[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Non-small cell lung carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007131[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Nonimmune chronic idiopathic neutropenia of adults</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842930[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Nonsteroidal anti-inflammatory drug response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN297084[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Nonsyndromic congenital nail disorder 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843761[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Noonan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028326[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Noonan syndrome and Noonan-related syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681679[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome with multiple lentigines</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175704[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Noonan syndrome-like disorder with loose anagen hair</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843181[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Noonan-like syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Norum disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023195[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Obesity due to prohormone convertase I deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833053[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Odontohypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840322[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Oligosaccharidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5547641[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Ondansetron response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN417142[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ophthalmoplegic neuromuscular disorder with abnormal mitochondria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850302[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Orofaciodigital syndrome I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1510460[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0029434[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Osteogenesis imperfecta type 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151211[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151218[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151433[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553887[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554428[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808844[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015610[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225301[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Osteogenesis imperfecta type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931093[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279564[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853162[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970458[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850169[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023931[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268362[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta, CREB3L1 related</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN231481[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteogenesis imperfecta, type III/IV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015948[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Osteootohepatoenteric syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543557[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Osteopetrosis with renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0345407[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Otofaciocervical syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5442121[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Otopalatodigital Spectrum Disorders</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN043653[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Pancreatic adenocarcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0281361[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pancytopenia due to IKZF1 mutations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225173[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Parkinson disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0030567[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Paroxetine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221255[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Partial adenosine deaminase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863239[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Partial hypoxanthine-guanine phosphoribosyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268117[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pazopanib response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN232333[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Pearson syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342784[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Peginterferon alfa-2a response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN184128[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Peginterferon alfa-2b response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN078000[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pegloticase response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN575653[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pelger-Huet-like anomaly and episodic fever with abdominal pain</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850054[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015067[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Peripheral neuropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031117[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Periventricular nodular heterotopia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868720[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Peroxisome biogenesis disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832200[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 1A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721541[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Peutz-Jeghers syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031269[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Phenylketonuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031485[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Phenytoin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN069167[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Phenytoin toxicity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0149969[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342749[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Phosphoenolpyruvate carboxykinase deficiency, mitochondrial</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849821[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Phosphoribosylpyrophosphate synthetase superactivity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970827[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pityriasis rubra pilaris</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032027[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540232[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>PLIN1-related familial partial lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5191005[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>PMM2-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349653[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Poikiloderma with neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858723[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>POLR3-related leukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679947[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Polycystic kidney disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022680[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Polycystic liver disease 4 with or without kidney cysts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693479[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Polyendocrinopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681797[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Polyglandular autoimmune syndrome, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085859[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Polyglucosan body myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN228160[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Polyglucosan body myopathy 1 with immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017231[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Polyglucosan body myopathy 1 without immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017232[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Polyglucosan body myopathy type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014605[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Porokeratosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162839[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Porokeratosis 3, disseminated superficial actinic type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867981[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Porphobilinogen synthase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268328[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848305[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Porphyria cutanea tarda</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162566[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>PPARG-related familial partial lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720861[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Prader-Willi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032897[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680343[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Predisposition to invasive fungal disease due to CARD9 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859353[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Premature ovarian failure</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085215[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Premature ovarian failure 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552079[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Primary CD59 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676767[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008780[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Primary dilated cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007193[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Primary familial dilated cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340427[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>Primary familial hypertrophic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0949658[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Primary hyperoxaluria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020501[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Primary hyperoxaluria type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150878[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Primary hyperoxaluria, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268164[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Primary hyperoxaluria, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268165[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Primary immunodeficiency with predisposition to severe viral infection</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681211[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Progeroid and marfanoid aspect-lipodystrophy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310796[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Progressive external ophthalmoplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162674[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Progressive familial intrahepatic cholestasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268312[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Progressive familial intrahepatic cholestasis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865643[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Prolidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268532[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Propionic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268579[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Proteasome-associated autoinflammatory syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746851[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Proteasome-associated autoinflammatory syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747989[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Proteasome-associated autoinflammatory syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747850[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749149[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Proteasome-associated autoinflammatory syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543053[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Proteasome-associated autoinflammatory syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543027[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Protein-losing enteropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033680[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839874[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Proton pump inhibitor response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN297082[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Proximal renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268435[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pseudo-TORCH syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3489725[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pseudo-TORCH syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479376[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pseudo-TORCH syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394391[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Pseudohypoaldosteronism type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268436[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pseudohypoaldosteronism type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840390[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pseudohypoaldosteronism type 2C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840391[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pseudohypoaldosteronism type 2D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469605[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pseudohypoaldosteronism type 2E</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469606[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pseudoxanthoma elasticum</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033847[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Psoriasis 13, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279754[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Psoriasis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864497[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>PTEN hamartoma tumor syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959582[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pulmonary alveolar proteinosis with hypogammaglobulinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747984[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553617[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225346[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225347[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231457[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676927[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pulmonary fibrosis, idiopathic, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016689[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary hypertension, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552070[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pure gonadal dysgenesis 46,XY</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936694[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pure mitochondrial myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4517289[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Purine-nucleoside phosphorylase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268125[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858361[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Pyropoikilocytosis, hereditary</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0520739[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Pyruvate kinase deficiency of red cells</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340968[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Qualitative or quantitative defects of dystrophin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679787[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Rasburicase response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN078005[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>RASopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5555857[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Recombinase activating gene 2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN257931[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Reducing body myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0270970[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Renal carnitine transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342788[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Renal cysts and diabetes syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0431693[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Renal hypomagnesemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835171[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Renal hypomagnesemia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673648[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Renal hypomagnesemia 5 with ocular involvement</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721891[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Renal hypomagnesemia 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151295[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Renal tubular acidosis with progressive nerve deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0403554[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Renal-hepatic-pancreatic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673883[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Reticular dysgenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272167[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Retinal dystrophy and microvillus inclusion disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561943[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860518[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Retinitis pigmentosa and erythrocytic microcytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310776[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Revesz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327916[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Rh-null, regulator type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849387[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Rhabdomyolysis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035410[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Rhizomelic chondrodysplasia punctata</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282529[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Ribavirin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN184129[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>RIDDLE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677792[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Rippling muscle disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853698[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Rosuvastatin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN282573[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Russell-Silver syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175693[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Sandhoff disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0036161[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Schimke immuno-osseous dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0877024[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>SCID due to ADA deficiency, delayed onset</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN042911[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Selective serotonin reuptake inhibitor response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221268[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Sertraline response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN221265[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085110[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Severe combined immunodeficiency due to CARD11 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554686[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to CARMIL2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748304[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Severe combined immunodeficiency due to CD70 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568559[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to CORO1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809383[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Severe combined immunodeficiency due to CTPS1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014617[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to DCLRE1C deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865370[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Severe combined immunodeficiency due to LAT deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479588[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863236[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832322[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency, B cell-negative</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867362[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Severe congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853118[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Sex-linked hereditary disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0949683[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Short QT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2348199[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>SHORT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878684[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Shprintzen-Goldberg syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1321551[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Shwachman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272170[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Shwachman-Diamond syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4692625[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Shwachman-Diamond syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693704[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Sick sinus syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0037052[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Silver-Russell syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5393125[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680247[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Simpson-Golabi-Behmel syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846175[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Simvastatin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN128903[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Singleton-Merten syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225427[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Singleton-Merten syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225380[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Sinus histiocytosis with massive lymphadenopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019625[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Sitosterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342907[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Smith-Lemli-Opitz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175694[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Sneddon syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282492[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Solid tumor</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0280100[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Southeast Asian ovalocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862322[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Spastic paraplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0037772[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Specific granule deficiency 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551556[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Specific granule deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479548[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Sphingolipid activator protein 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268262[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Spinal muscular atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026847[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834569[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia 49</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676950[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Spinocerebellar ataxia 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752125[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752121[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752124[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853761[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Spondylo-ocular syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225412[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Spondylodysplastic Ehlers-Danlos syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680154[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842763[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017377[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Stage IV Non-Small Cell Lung Cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0278987[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>STAT3-related early-onset multisystem autoimmune disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014795[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Statin causing adverse effect in therapeutic use</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0570410[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Statin-induced myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5923430[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Sterile multifocal osteomyelitis with periostitis and pustulosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748507[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Stiff skin syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861456[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>STING-associated vasculopathy with onset in infancy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014722[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Stormorken syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861451[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li class="bg_blue"><strong>Stuve-Wiedemann syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676919[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Subcutaneous panniculitis-like T-cell lymphoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0522624[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Sucrase-isomaltase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1283620[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Sudden unexplained death</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0520806[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Sulfite oxidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268624[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Supravalvar aortic stenosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003499[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Susceptibility to HIV infection</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836230[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Susceptibility to respiratory infections associated with CD8alpha chain mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837065[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Symmetrical dyschromatosis of extremities</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406775[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN207522[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Syndromic congenital sodium diarrhea</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680120[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Syndromic intellectual disability</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680525[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Syndromic multisystem autoimmune disease due to ITCH deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150649[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Systemic lupus erythematosus 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676884[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Systemic lupus erythematosus, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866373[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>T-cell immunodeficiency, congenital alopecia, and nail dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866426[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394133[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tacrolimus response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3547403[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tafenoquine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262925[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tamoxifen response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN078013[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tay-Sachs disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0039373[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Telomere syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4727832[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Terminal osseous dysplasia-pigmentary defects syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846129[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Tetralogy of Fallot</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0039685[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tetraploidy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795884[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Thioguanine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN078017[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Thiopurine metabolic disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931223[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Thiopurine response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN971394[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Thiopurine S-methyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342801[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Thiopurines, poor metabolism of, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225160[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Thrombocytopenia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839163[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>THROMBOCYTOPENIA, X-LINKED, INTERMITTENT</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839164[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Thrombophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398623[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Thrombotic microangiopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2717961[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Thyroid dyshormonogenesis 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846632[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Thyroid gland carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0549473[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tibial muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838244[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>TNF receptor-associated periodic fever syndrome (TRAPS)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275126[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tolbutamide response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016718[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Transient bullous dermolysis of the newborn</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851573[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Transient infantile hypertriglyceridemia and hepatosteatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280953[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Trichohepatoenteric syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857276[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Trichohepatoenteric syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551982[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Trichohepatoenteric syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281289[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Tricyclic antidepressant response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN297083[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Triosephosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860808[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Triploidy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0333693[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Trisomy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0041107[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Trisomy X syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221033[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tropisetron response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN417143[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tuberous sclerosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854465[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tuberous sclerosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860707[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tuberous sclerosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0041341[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Tumoral calcinosis, hyperphosphatemic, familial, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4692564[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tumoral calcinosis, hyperphosphatemic, familial, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693863[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tumoral calcinosis, hyperphosphatemic, familial, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693864[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Turner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0041408[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>Twinning, monozygotic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1321860[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Tyrosinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268483[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Tyrosinemia type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268490[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Uniparental disomy of maternal origin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518512[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Uniparental disomy of paternal origin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518513[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Upshaw-Schulman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1268935[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>VACTERL association</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1735591[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Varicella, severe recurrent</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833487[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Variegate porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162532[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Vasculitis due to ADA2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887654[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li><li><strong>Velocardiofacial syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220704[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5542154[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>Ventricular fibrillation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0042510[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Ventriculomegaly-cystic kidney disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857423[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Very long chain acyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887523[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li class="bg_blue"><strong>Vitamin B12-responsive methylmalonic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342720[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Vitamin D hydroxylation-deficient rickets, type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838657[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Vitamin D-dependent rickets, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268689[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Von Hippel-Lindau syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019562[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Voriconazole response</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN077957[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Warfarin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0750384[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Warts, hypogammaglobulinemia, infections, and myelokathexis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472817[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Weill-Marchesani syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265313[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>WHIM syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5542296[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>WHIM syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543622[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Wiedemann-Steiner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854630[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Wilms tumor 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN033288[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>Wilson disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019202[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>Wiskott-Aldrich syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043194[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Wiskott-Aldrich syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281001[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Wolff-Parkinson-White pattern</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043202[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li class="bg_blue"><strong>Wolman disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043208[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>X-linked agammaglobulinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221026[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li class="bg_blue"><strong>X-linked agammaglobulinemia with growth hormone deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472813[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>X-linked Alport syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746986[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>X-linked cerebral adrenoleukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2026514[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>X-linked distal spinal muscular atrophy type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845359[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>X-linked erythropoietic protoporphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677889[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275445[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>X-linked intellectual disability with marfanoid habitus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796022[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>X-linked intellectual disability, van Esch type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4305072[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>X-linked lymphoproliferative disease due to SH2D1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399825[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li><strong>X-linked lymphoproliferative disease due to XIAP deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845076[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">7 tests</a></span></li><li class="bg_blue"><strong>X-linked lymphoproliferative syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0549463[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">6 tests</a></span></li><li><strong>X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970859[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>X-linked myopathy with postural muscle atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678055[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>X-linked osteoporosis with fractures</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5190610[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>X-linked reticulate pigmentary disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845050[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li><strong>X-linked severe combined immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1279481[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>X-linked severe congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845987[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">5 tests</a></span></li><li><strong>X-linked spondyloepimetaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848097[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">2 tests</a></span></li><li class="bg_blue"><strong>Xanthinuria type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863688[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li><strong>Xerocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272051[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">1 test</a></span></li><li class="bg_blue"><strong>ZAP70-Related Severe Combined Immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931299[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">3 tests</a></span></li><li><strong>Zellweger spectrum disorders</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043459[DISCUI] AND 500068[ORGID]" ref="ncbi_uid=500068">4 tests</a></span></li></ul></form></div></div><div class="box"><h2 id="services">List of services</h2><div class="lab_box_bd"><ul class="bullet_list"><li>Clinical Testing/Confirmation of Mutations Identified Previously</li><li>Maternal cell contamination study (MCC): Order Code:
MATCC</li><li>Zygosity Testing (Multiple Births): Order Code:
MULT</li><li>Specimen Source Identification: Order Code:
SPECI</li><li>Uniparental Disomy (UPD) Testing: Order Code:
UNIPD</li></ul></div></div><div class="box"><h2>List of certifications/licenses</h2><div class="lab_box_bd "><h3 class="heading3">Certifications</h3><ul class="li_magin_t1 "><li>CLIA<a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help&#10; question-button" href="#popper_CLIACertificationNumber" title="" data-jigconfig="isTriggerElementCloseClick: false, hasArrow:&#10; true,openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust',&#10; triggerPosition: 'center right', destPosition: 'center left'">Help</a><span class="hidden help-tooltip" id="popper_CLIACertificationNumber">Certification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests.
If pending renewal or record has not been updated, the expiration date may be in the past.</span>, <strong>Number: </strong>24D0404292, <strong>Expiration date: </strong>2025-02-27</li><li>CLIA, <strong>Number: </strong>24D1040592, <strong>Expiration date: </strong>2025-10-03</li><li>CAP, <strong>Number: </strong>1808201, <strong>Expiration date: </strong>2026-05-15</li><li>CAP, <strong>Number: </strong>7193341, <strong>Expiration date: </strong>2026-05-15</li></ul></div></div></div></div></div>
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<p><strong>IMPORTANT NOTE: </strong>NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. <em><strong>Patients and consumers</strong></em> with specific questions about a genetic test should contact a health care provider or a genetics professional.</p>
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