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<div><div class="rprt rprt-lab clearfix"><div class="rprt_header"><h1 class="margin_t0" data-lab-id="320418" data-lab-name="Institute of Human Genetics" id="lab-info">Institute of Human Genetics</h1></div><div class="lab-page-header lab_box_bd"><div class="col six_col"><ul class="std_list"><li>Institute of Human Genetics, ZMGI</li><li>Medical University Innsbruck</li><li>Department: Department of Genetics</li><li class="margin_t1">Peter-Mayr-Str. 1</li><li>Innsbruck, Tirol, Austria 6020</li><li>Phone: +43 (0)512-9003-70531<br />Fax: +43 (0)512-9003-73510<br />Email: <a href="mailto:humgendiag@i-med.ac.at" target="_blank">humgendiag@i-med.ac.at</a></li><li>Website: <a class="external-link" href="http://www.humgen.at/" target="_blank">http://www.humgen.at/</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/320418/.">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: 320418, Last updated:2024-10-10</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>Johannes Zschocke, PhD, MD, Medical Director<br />Phone: +(43)-512-900370500<br />Fax: +(43)-512- 900373510<br />Email: <a href="mailto:johannes.zschocke@i-med.ac.at" target="_blank">johannes.zschocke@i-med.ac.at</a></li><li>Martina Witsch-Baumgartner, PhD, Lab Director<br />Phone: +(43)-512-900370545<br />Fax: +(43)-512-900373510<br />Email: <a href="mailto:witsch-baumgartner@i-med.ac.at" target="_blank">witsch-baumgartner@i-med.ac.at</a></li><li>Christine Fauth, MD, Genetic Counselor<br />Phone: +(43)-512-900370538<br />Email: <a href="mailto:christine.fauth@i-med.ac.at" target="_blank">christine.fauth@i-med.ac.at</a></li><li>Sabine Rudnik, MD, Genetic Counselor<br />Phone: +49512900370511<br />Email: <a href="mailto:sabine.rudnik@i-med.ac.at" target="_blank">sabine.rudnik@i-med.ac.at</a></li><li>Ingrid Weber, MD, Genetic Counselor<br />Phone: +43512900370504<br />Email: <a href="mailto:ingrid.weber@i-med.ac.at" target="_blank">ingrid.weber@i-med.ac.at</a></li><li>Katharina Wimmer, PhD, Scientific Director<br />Phone: +(43)-512-900370513<br />Email: <a href="mailto:katharina.wimmer@i-med.ac.at" target="_blank">katharina.wimmer@i-med.ac.at</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=320418" ref="ncbi_uid=320418">288 conditions/phenotypes</a></strong><strong> with <a href="/gtr/tests/?term=320418[ORGID]" ref="ncbi_uid=320418">179 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>3 beta-Hydroxysteroid dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342471[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751532[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>3-methylcrotonyl-CoA carboxylase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268600[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>3-methylcrotonyl-CoA carboxylase 2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859499[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>3-methylglutaconic aciduria type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342727[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>3MC syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796059[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>3MC syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796279[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>3MC syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796032[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Abetalipoproteinaemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0000744[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Achondroplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001080[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Acrocephalosyndactyly type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001193[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Acroerythrokeratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025221[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Acute intermittent porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162565[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Adult-onset foveomacular vitelliform dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842914[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Alagille syndrome due to a JAG1 point mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1956125[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Alpha-1-antitrypsin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221757[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">3 tests</a></span></li><li><strong>Alzheimer disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002395[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Amelocerebrohypohidrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406740[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</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 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931786[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Angelman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162635[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150099[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Aspartylglucosaminuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268225[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Ateleiotic dwarfism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342573[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Autism, susceptibility to, X-linked 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845336[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant Alport syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5882663[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Autosomal dominant keratitis-ichthyosis-hearing loss syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265336[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675236[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 3A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675750[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832425[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Autosomal recessive Alport syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746745[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive axonal neuropathy with neuromyotonia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5700127[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Autosomal recessive bestrophinopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888198[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673759[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Bardet-Biedl syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752166[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Benign familial hematuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0241908[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>beta Thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0005283[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Biotinidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220754[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Bone osteosarcoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0585442[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Breast-ovarian cancer, familial, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676676[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Breast-ovarian cancer, familial, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675520[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Carcinoid tumor of intestine</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349535[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Carcinoma of pancreas</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0235974[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Carney-Stratakis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847319[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">3 tests</a></span></li><li><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833518[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Carpal tunnel syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007286[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease axonal type 2F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847823[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease axonal type 2K</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842983[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease dominant intermediate D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843075[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0270912[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 1D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843247[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 1F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843164[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 2A2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721887[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 2B1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854154[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 2E</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843225[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 2I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888087[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 4A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859198[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 4C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866636[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 4E</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721436[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>CHARGE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265354[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Cholestasis, intrahepatic, of pregnancy, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554241[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Choroidal dystrophy, central areolar 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751290[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Citrullinemia type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721769[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936858[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Classic homocystinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751202[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>COACH syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435651[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Collagen IV-related nephropathies</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN076135[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">3 tests</a></span></li><li class="bg_blue"><strong>Colorectal cancer, hereditary nonpolyposis, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1333991[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Cone dystrophy with supernormal rod response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835897[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Cone-rod dystrophy 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866293[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Congenital adrenal hyperplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001627[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860042[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Congenital hyperammonemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4082171[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Congenital microvillous atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0341306[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Congenital secretory diarrhea, chloride type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0267662[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Congenital secretory sodium diarrhea 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5441927[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Congenital stationary night blindness autosomal dominant 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864869[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Cowden syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0018553[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Cowden syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN166604[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Cowden-Like Syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676500[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Crouzon syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010273[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Cystic fibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010674[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>D-2-hydroxyglutaric aciduria 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3152055[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of 2-methylbutyryl-CoA dehydrogenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864912[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Deficiency of butyryl-CoA dehydrogenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342783[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of hydroxymethylglutaryl-CoA lyase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268601[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268151[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Dejerine-Sottas disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0011195[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Developmental and epileptic encephalopathy, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3463992[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Dihydropyrimidine dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959620[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1449563[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796031[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Dominant beta-thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858990[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Dystonia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832855[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410190[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Encephalopathy due to GLUT1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551966[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Endometrial carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0476089[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">3 tests</a></span></li><li><strong>Epilepsy, idiopathic generalized, susceptibility to, 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553859[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Erythrokeratodermia variabilis et progressiva 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551486[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Fabry disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002986[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Familial adenomatous polyposis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2713442[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Familial adenomatous polyposis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3272841[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Familial cold autoinflammatory syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551895[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Familial hypercholesterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020445[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Familial hypobetalipoproteinemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551990[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Familial Mediterranean fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031069[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Familial Mediterranean fever, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851347[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Familial meningioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3551915[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Familial partial lipodystrophy, Dunnigan type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720860[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Familial porphyria cutanea tarda</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268323[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Familial renal glucosuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3245525[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Fetal hemoglobin quantitative trait locus 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1841621[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Follicular thyroid carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206682[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Fructose and galactose intolerance</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856686[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Galactosylceramide beta-galactosidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023521[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Gastrointestinal stromal tumor</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238198[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Generalized epilepsy with febrile seizures plus, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858673[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glucose-6-phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268146[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glutaryl-CoA oxidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342873[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glutathione synthetase deficiency without 5-oxoprolinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856399[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glycine encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751748[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IIIa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968739[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glycogen storage disease IIIb</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968740[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IXa1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3694531[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glycogen storage disease IXb</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0543514[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IXc</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751643[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glycogen storage disease, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017921[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type IV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017923[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Glycogen storage disease, type V</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017924[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type VI</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017925[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>GM1 gangliosidosis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268272[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>GM1 gangliosidosis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268273[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hb SS disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002895[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Heart-hand syndrome, Slovenian type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857829[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Heinz body anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0700299[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hemochromatosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469186[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hepatic methionine adenosyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268621[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hereditary antithrombin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272375[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hereditary factor VIII deficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019069[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hereditary motor and sensory neuropathy with optic atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393807[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hereditary sensory and autonomic neuropathy with spastic paraplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850395[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Homocystinuria due to methylene tetrahydrofolate reductase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856061[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>HSD10 mitochondrial disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3266731[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hypercholesterolemia, autosomal dominant, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863551[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hypercholesterolemia, familial, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0745103[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hyperimmunoglobulin D with periodic fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398691[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hyperlipoproteinemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023817[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hyperlysinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268553[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hyperparathyroidism 2 with jaw tumors</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1704981[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Hyperprolinemia type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931835[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Hyperthyroxinemia, dystransthyretinemic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750824[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Ichthyosis, hystrix-like, with hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865234[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Infantile GM1 gangliosidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268271[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Inherited blood coagulation disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0852077[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Inherited glutathione synthetase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN030166[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Intellectual disability, autosomal dominant 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553248[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Isovaleryl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268575[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Joubert syndrome 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280766[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Joubert syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853153[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Juvenile retinoschisis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714753[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Knuckle pads, deafness AND leukonychia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266004[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Langer mesomelic dysplasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432230[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Leber congenital amaurosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931258[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Leber congenital amaurosis 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675186[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Leber congenital amaurosis 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151202[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Legius syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969623[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Leri-Weill dyschondrosteosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265309[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Loricrin keratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858805[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Lynch syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936783[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Lynch syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838333[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Lynch syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833477[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Macrocephaly-autism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854416[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Macular degeneration, X-linked atrophic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151784[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Malaria, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970028[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Malignant tumor of testis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0153594[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Malignant tumor of urinary bladder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0005684[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Maple syrup urine disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024776[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Meckel syndrome, type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846357[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Melanoma, cutaneous malignant, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835047[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855114[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Mevalonic aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959626[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Microvascular complications of diabetes, susceptibility to, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673520[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Migraine, familial hemiplegic, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864987[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Mismatch repair cancer syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399763[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">4 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-III-A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086647[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Mucopolysaccharidosis, MPS-IV-B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086652[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Muenke syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864436[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Muir-Torré syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1321489[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Multiple endocrine neoplasia, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025267[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Multiple sclerosis, susceptibility to, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553728[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Mutilating keratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265964[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>MYH9-related disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854520[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Myoglobinuria, acute recurrent, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849386[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Neoplasm of stomach</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0038356[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Nephronophthisis 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150796[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Nephrotic syndrome, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868672[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Neurofibromatosis, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027831[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Neurofibromatosis, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027832[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Niemann-Pick disease, type C1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3179455[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Niemann-Pick disease, type C2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843366[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Nonpapillary renal cell carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN074294[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Ornithine carbamoyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268542[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Palmoplantar keratoderma-deafness syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835672[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Pancreatic cancer, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150546[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Paragangliomas 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854336[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Paragangliomas 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861848[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Paragangliomas with sensorineural hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868633[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Patterned macular dystrophy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551999[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Peutz-Jeghers syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031269[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>PGM1-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752015[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Phenylketonuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031485[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Pheochromocytoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031511[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">3 tests</a></span></li><li><strong>Phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342749[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Pigmentary retinal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0311338[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Pilomatrixoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206711[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Polyglandular autoimmune syndrome, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085859[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">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 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Progressive myoclonic epilepsy type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673257[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Propionic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268579[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Protoporphyria, erythropoietic, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4692546[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Pyridoxine-dependent epilepsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849508[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>RECLASSIFIED - MTTP POLYMORPHISM</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970051[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinitis pigmentosa 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220701[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838601[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinitis pigmentosa 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838647[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2681923[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinitis pigmentosa 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845667[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151001[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinitis pigmentosa 45</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151066[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 50</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750789[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinitis pigmentosa 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842475[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749137[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Retinoblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035335[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Rett syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035372[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Rhabdoid tumor predisposition syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836327[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Robinow-Sorauf syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867146[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Roussy-Lévy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0205713[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Saethre-Chotzen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175699[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Schwannomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1335929[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li class="bg_blue"><strong>Severe myoclonic epilepsy in infancy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751122[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Severe neonatal-onset encephalopathy with microcephaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968556[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>SHOX-related short stature</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845118[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Smith-Lemli-Opitz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175694[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Spongy degeneration of central nervous system</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206307[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Squamous cell carcinoma of the head and neck</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1168401[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Supravalvar aortic stenosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003499[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Susceptibility to mononeuropathy of the median nerve, mild</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150596[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Syndromic X-linked intellectual disability Lubs type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846058[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Tetralogy of Fallot</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0039685[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>TNF receptor-associated periodic fever syndrome (TRAPS)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275126[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280096[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Trimethylaminuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342739[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>TWIST1-related craniosynostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551902[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Tyrosinemia type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268490[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>UDPglucose-4-epimerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751161[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Variegate porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162532[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">2 tests</a></span></li><li><strong>Vitelliform macular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0339510[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>Von Hippel-Lindau syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019562[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>Wilson disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019202[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>X-linked Alport syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746986[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>X-linked cone-rod dystrophy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844776[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>X-linked ichthyosis with steryl-sulfatase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079588[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li><strong>X-linked intellectual disability-psychosis-macroorchidism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796222[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</a></span></li><li class="bg_blue"><strong>X-linked lissencephaly with abnormal genitalia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846171[DISCUI] AND 320418[ORGID]" ref="ncbi_uid=320418">1 test</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>Confirmation of research findings</li><li>Custom Deletion/Duplication Testing</li><li>Prenatal testing</li><li>Custom Sequence Analysis</li><li>Custom microarray analysis</li><li>Carrier testing</li><li>DNA Banking</li><li>Genetic counseling</li><li>Maternal cell contamination study (MCC)</li><li>Mutation Confirmation</li><li>Result interpretation</li><li>Uniparental Disomy (UPD) Testing</li><li>Whole Exome Sequencing</li><li>Whole Genome Sequencing, <a class="jig-ncbipopper" data-jigconfig="groupName : 'test-comments',isDocumentCloseClick : true, hasArrow: true, arrowDirection: 'left', openAnimation : 'none', closeAnimation :'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'" href="#comment_ordercode_15">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_15">in the establishment and validation phase</div></li><li>X-Chromosome Inactivation Studies</li><li>Long-Read Repeat Panel-Sequencing on Revio (PacBio), <a class="jig-ncbipopper" data-jigconfig="groupName : 'test-comments',isDocumentCloseClick : true, hasArrow: true, arrowDirection: 'left', openAnimation : 'none', closeAnimation :'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'" href="#comment_ordercode_17">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_17">in the establishment and validation phase</div></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>ISO15189, <strong>Number: </strong>0373</li></ul></div></div><div class="box"><h2>Participation in external programs</h2><div class="lab_box_bd "><h3>Standardization programs</h3><ul class="bullet_list"><li>Locus-specific Databases</li><li>Other</li></ul><h3>Data exchange Programs</h3><ul class="bullet_list"><li>Locus-specific Databases</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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