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<div><div class="rprt rprt-lab clearfix"><div class="rprt_header"><h1 class="margin_t0" data-lab-id="202248" data-lab-name="CGC Genetics" id="lab-info">CGC Genetics</h1></div><div class="lab-page-header lab_box_bd"><div class="col six_col"><ul class="std_list"><li>CGC Genetics</li><li>Unilabs</li><li class="margin_t1">Rua Manuel Pinto de Azevedo, 173</li><li>Porto, Porto, Portugal 4100-321</li><li>Phone: +351 222401401<br />Email: <a href="mailto:genetics.info@unilabs.com" target="_blank">genetics.info@unilabs.com</a><br />Online Contact: <a href="https://www.unilabs.pt/en/services/specialties/medical-genetics/contact-us">https://www.unilabs.pt/en/services/specialties/medical-genetics/contact-us</a></li><li>Website: <a class="external-link" href="https://www.unilabs.pt/en/services/specialties/medical-genetics/about" target="_blank">https://www.unilabs.pt/en/services/specialties/medical-genetics/about</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/202248/.">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: 202248, Last updated:2024-10-01</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>Rita Cerqueira, BSc, Lab Director<br />Phone: +351 222 401 401<br />Email: <a href="mailto:rita.cerqueira@unilabs.com" target="_blank">rita.cerqueira@unilabs.com</a></li><li>Benedita Monteiro, BSc, test list curator<br />Phone: 00351223389900<br />Email: <a href="mailto:benedita.monteiro@unilabs.com" target="_blank">benedita.monteiro@unilabs.com</a></li><li>Joaquim Sa, MD, Medical Director<br />Phone: +351 222 401 401<br />Email: <a href="mailto:joaquim.sa@external.unilabs.com" target="_blank">joaquim.sa@external.unilabs.com</a></li><li>Nicolas Stephanou, PhD, MBA, CEO<br />Phone: +351 222 401 401<br />Email: <a href="mailto:genetics.info@unilabs.com" target="_blank">genetics.info@unilabs.com</a></li><li>Purificacao Tavares, PhD, MD, Founder, Board Member and Specialist in Medical Genetics<br />Phone: +351 222 401 401<br />Email: <a href="mailto:purificacao.tavares@external.unilabs.com" target="_blank">purificacao.tavares@external.unilabs.com</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=202248" ref="ncbi_uid=202248">759 conditions/phenotypes</a></strong><strong> with <a href="/gtr/tests/?term=202248[ORGID]" ref="ncbi_uid=202248">3977 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-hydroxyisobutyryl-CoA hydrolase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342738[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>3-methylcrotonyl-CoA carboxylase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268600[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>3-Methylglutaconic aciduria type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0574084[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>46 XX gonadal dysgenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0685837[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>46,XY sex reversal 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748896[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>4p partial monosomy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1956097[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>5p partial monosomy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010314[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Abducens nerve palsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551519[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Achromatopsia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1841721[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Achromatopsia 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552227[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Acne inversa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162836[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Acral peeling skin syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853354[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Acroerythrokeratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025221[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Acute febrile mucocutaneous lymph node syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026691[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278664[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Acute lymphoid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023449[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">11 tests</a></span></li><li><strong>Acute myeloid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023467[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">21 tests</a></span></li><li class="bg_blue"><strong>Acute promyelocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023487[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">6 tests</a></span></li><li><strong>Adams-Oliver syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265268[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Adams-Oliver syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014970[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>ADULT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863204[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Aganglionic megacolon</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019569[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li><strong>Aicardi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175713[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>ALG11-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150913[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Alpha-fetoprotein deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863081[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2960310[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Amelocerebrohypohidrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406740[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Amelogenesis imperfecta, hypocalcification type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0399376[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Amyotrophic lateral sclerosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002736[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis type 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677565[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Amyotrophic lateral sclerosis type 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275459[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis type 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280587[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Amyotrophic lateral sclerosis type 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553719[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837728[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Amyotrophic lateral sclerosis type 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678468[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Amyotrophic lateral sclerosis, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016314[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Aneurysm-osteoarthritis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151087[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Angelman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162635[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Anterior segment dysgenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862839[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Aortic aneurysm, familial thoracic 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809513[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Aortic valve disease 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542024[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Aortic valve disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1260873[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Arginine:glycine amidinotransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675179[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862511[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969081[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810138[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Arthrogryposis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003886[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859722[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Asperger syndrome, X-linked, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN029334[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Asperger syndrome, X-linked, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN029122[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Athetosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004158[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279693[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Atrial fibrillation, familial, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677294[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677106[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Atrial septal defect 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842778[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atrial septal defect 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276096[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Atrial septal defect 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280943[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atrioventricular septal defect, partial, with heterotaxy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853509[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Attention deficit hyperactivity disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1263846[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atypical chronic myeloid leukemia, BCR-ABL1 negative</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1292772[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Atypical hemolytic-uremic syndrome with anti-factor H antibodies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5680286[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Atypical hemolytic-uremic syndrome with B factor anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752038[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Auriculocondylar syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551996[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Auriculocondylar syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553404[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Auriculocondylar syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810332[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autism spectrum disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1510586[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">7 tests</a></span></li><li><strong>Autism spectrum disorder - epilepsy - arthrogryposis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809910[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN301239[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal chromosomal disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0969687[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant Kenny-Caffey syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4316787[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721885[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant limb-girdle muscular dystrophy type 1F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842062[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant limb-girdle muscular dystrophy type 1G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836765[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865366[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858172[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854594[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854158[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 40</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4084708[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 41</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842371[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 44</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843895[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832932[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 50</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888123[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 64</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279948[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal dominant polycystic liver disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0158683[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866094[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 24</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970239[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1414017[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 29</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279660[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 35</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837857[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 42</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864818[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 48</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836199[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 49</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857811[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 59</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857744[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832992[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 63</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969621[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 67</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853223[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 74</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2239351[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 76</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3147083[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 79</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750082[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832827[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 91</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150704[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Autosomal recessive osteopetrosis 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554478[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Avascular necrosis of the head of femur</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410480[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Azorean disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024408[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>B-cell chronic lymphocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023434[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">11 tests</a></span></li><li><strong>Baraitser-Winter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853623[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Baraitser-Winter syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855722[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Bardet-Biedl syndrome 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859570[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Bardet-Biedl syndrome 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714980[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Basal ganglia calcification, idiopathic, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809645[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Behcet disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004943[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Bothnia retinal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843816[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Brachydactyly type A1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862151[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Brachyrachia (short spine dysplasia)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432227[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Branchiootorenal syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970479[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Breast cancer, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469522[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Breast-ovarian cancer, familial, susceptibility to, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280345[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Brown-Vialetto-van Laere syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796274[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Bruck syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432253[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Brugada syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751089[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Brugada syndrome 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751088[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Brugada syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751083[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Burkitt lymphoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0006413[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Capillary malformation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340803[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399977[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Carney-Stratakis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847319[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cataract 1 multiple types</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861828[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cataract 17 multiple types</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888124[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cataract 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808012[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cataract 33</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808107[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cataract 40</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4049004[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cataract 5 multiple types</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266537[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cataract 9 multiple types</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858679[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Catecholaminergic polymorphic ventricular tachycardia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554047[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Caudal regression sequence</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0300948[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cellular mosaicism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0333678[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281223[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cerebral creatine deficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5244016[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cerebro-costo-mandibular syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265342[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cerebro-facio-thoracic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859252[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cerebrooculofacioskeletal syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853100[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Char syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868570[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease axonal type 2C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853710[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease dominant intermediate C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842237[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease dominant intermediate F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749463[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 4J</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970011[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>CHIME syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848392[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cholangiocarcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206698[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Chondrodysplasia with joint dislocations, gPAPP type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279757[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Chromosome 1p36 deletion syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842870[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Chromosome 2q37 deletion syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931817[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Chromosome Xp11.22 duplication syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796238[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Chronic myelogenous leukemia, BCR-ABL1 positive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0279543[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">5 tests</a></span></li><li><strong>Chronic neutrophilic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023481[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Chronic pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0149521[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>CK syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151781[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Clubfoot</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0009081[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cole-Carpenter syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4317154[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Colorectal cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0346629[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Combined immunodeficiency due to CD3gamma deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810107[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Complete trisomy 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN306866[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Complete trisomy 13 syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152095[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li class="bg_blue"><strong>Complete trisomy 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152096[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li><strong>Complete trisomy 21</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4521042[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Complex cortical dysplasia with other brain malformations 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809420[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Complex cortical dysplasia with other brain malformations 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810407[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cone dystrophy with supernormal rod response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835897[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cone-rod dystrophy 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835865[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cone-rod dystrophy 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN322944[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital absence of salivary gland</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0158667[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital amegakaryocytic thrombocytopenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327915[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital anomalies of kidney and urinary tract 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574705[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital central hypoventilation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275808[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital chromosomal disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008626[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">10 tests</a></span></li><li><strong>Congenital defect of folate absorption</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342705[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital dyserythropoietic anemia type type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810185[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital fibrosis of extraocular muscles</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1302995[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital fibrosis of extraocular muscles type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851102[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital generalized lipodystrophy type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750069[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital heart defects, multiple types, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554279[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital heart defects, multiple types, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151221[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital lipoid adrenal hyperplasia due to STAR deficency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342474[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0699743[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital muscular dystrophy with intellectual disability and severe epilepsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5190603[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital myasthenic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751882[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital myopathy 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836447[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital myopathy 4A, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN178536[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital nongoitrous hypothyroidism 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280817[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital nonprogressive myopathy with Moebius and Robin sequences</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850746[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Congenital plasminogen activator inhibitor type 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750067[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Congenital vertical talus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0240912[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cornea plana 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857574[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cornelia de Lange syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550903[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845446[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Costello syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0587248[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Craniofacial dysplasia - osteopenia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970027[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Craniosynostosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858160[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Craniosynostosis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833340[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Creatine transporter deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845862[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Cryptorchidism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010417[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Curry-Hall syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0457013[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Cutaneous porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5886774[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cutis laxa, autosomal recessive, type 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848058[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Cystic leukoencephalopathy without megalencephaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751843[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Deafness, mitochondrial, modifier of</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017209[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of hyaluronoglucosaminidase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291490[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Deficiency of malonyl-CoA decarboxylase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342793[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Delta-beta-thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271985[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dentatorubral-pallidoluysian atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751781[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dermatofibrosarcoma protuberans</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3693482[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Desbuquois syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432242[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Desmin-related myofibrillar myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832370[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Desmoplastic/nodular medulloblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751291[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Developmental and epileptic encephalopathy, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574665[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Developmental and epileptic encephalopathy, 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845102[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Developmental malformations-deafness-dystonia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848323[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1260899[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Diamond-Blackfan anemia 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750080[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675511[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Diaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0011989[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Diaphyseal medullary stenosis-bone malignancy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862177[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>DiGeorge syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0012236[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832244[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dilated cardiomyopathy 1CC</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751084[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1L</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847667[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dilated cardiomyopathy 1M</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843808[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1P</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835928[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dilated cardiomyopathy 1R</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150681[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1T</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151039[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dilated cardiomyopathy 1Y</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678476[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1Z</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678475[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dilated cardiomyopathy 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553409[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>DNA ligase IV deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847827[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>DOORS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795934[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Dopa-responsive dystonia due to sepiapterin reductase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268468[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Double Y syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3266843[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Down syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013080[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li class="bg_blue"><strong>Doyne honeycomb retinal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832174[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Duane retraction syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013261[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Duane retraction syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751083[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Duchenne muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013264[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Dysmorphic features</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432072[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">7 tests</a></span></li><li><strong>Dyssynergia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004134[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Early infantile epileptic encephalopathy with suppression bursts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393706[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Early onset severe obesity</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN372704[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567229[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>EGFR-related lung cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN130014[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome progeroid type</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN030853[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, musculocontractural type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809845[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552003[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Epilepsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0014544[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Epilepsy, childhood absence, susceptibility to, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677087[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Epilepsy, early-onset, vitamin B6-dependent</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310632[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Epilepsy, familial temporal lobe, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551957[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Epilepsy, idiopathic generalized, susceptibility to, 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751603[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Episodic ataxia type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675211[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Erythrocytosis, familial, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853286[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Essential pentosuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268162[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Ewing sarcoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0553580[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Exercise intolerance, riboflavin-responsive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225187[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Exudative vitreoretinopathy 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750079[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Factor XIII deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4316906[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial adenomatous polyposis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2713442[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Familial benign flecked retina</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856718[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial digital arthropathy-brachydactyly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847406[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Familial dysfibrinogenemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272350[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Familial ectopia lentis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2746069[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751293[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1876187[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Familial infantile myoclonic epilepsy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0917800[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial meningioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3551915[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Familial pulmonary capillary hemangiomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340848[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Familial temporal lobe epilepsy 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280730[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Fatal familial insomnia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206042[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Feingold syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280489[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Fibrosis of extraocular muscles, congenital, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865915[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Fibrous dysplasia of jaw</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008029[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Follicular lymphoma, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751665[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Fragile X syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016667[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</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 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Frank-Ter Haar syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855305[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Friedreich ataxia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016719[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150706[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Frontorhiny</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574965[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Frontotemporal dementia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0338451[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li class="bg_blue"><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833296[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Frontotemporal dementia with motor neuron disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888102[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Gamma-aminobutyric acid transaminase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342708[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Gamma-glutamylcysteine synthetase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856603[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Gastroesophageal reflux disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017168[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Gastrointestinal stromal tumor</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238198[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Generalized epilepsy with febrile seizures plus, type 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015395[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Genetic predisposition</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0314657[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li><strong>Gerstmann-Straussler-Scheinker syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017495[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Glioblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017636[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Glioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017638[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">7 tests</a></span></li><li><strong>Globozoospermia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0403825[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Gluthathione peroxidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398747[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Glycine encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751748[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>GM3 synthase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836824[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Goldberg-Shprintzen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836123[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Growth hormone insensitivity with immune dysregulation 1, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435698[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>GTP cyclohydrolase I deficiency with hyperphenylalaninemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN305333[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hearing loss, X-linked 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848204[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to adenylate kinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675459[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hemolytic anemia due to glucophosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150730[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to glutathione reductase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231513[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hemolytic uremic syndrome, atypical, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969906[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hereditary Chorea</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0699731[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hereditary disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019247[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3151 tests</a></span></li><li><strong>Hereditary hyperferritinemia with congenital cataracts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833213[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hereditary intrinsic factor deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1394891[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hereditary nonpolyposis colon cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1333990[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Hereditary pulmonary alveolar proteinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3711368[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hereditary spastic paraplegia 26</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836632[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spastic paraplegia 44</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750784[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hereditary spastic paraplegia 47</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279738[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spastic paraplegia 50</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752008[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hereditary spastic paraplegia 51</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151056[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hereditary spastic paraplegia 56</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3539507[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Heterotaxy, visceral, 2, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1415817[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Heterotaxy, visceral, 4, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151057[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Heyn-Sproul-Jackson syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231475[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Histidinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220992[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Histiocytic medullary reticulosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2700553[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Histiocytoid cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1708371[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Holoprosencephaly 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840528[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Human HOXA1 syndromes</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832215[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Huntington disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020179[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Huntington disease-like 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864112[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Huntington disease-like 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847987[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hydatidiform mole, recurrent, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280352[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hyper-IgM syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398689[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hyper-IgM syndrome type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720957[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hyperammonemia, type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268543[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypercholanemia, familial</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843139[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5201145[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hyperekplexia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553291[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypereosinophilic syndrome, idiopathic, resistant to imatinib</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016331[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hyperlipoproteinemia type IV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020480[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Hyperphosphatasemia tarda</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432272[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hyperphosphatasemia with bone disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268414[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hyperphosphatasia with intellectual disability syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551502[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hyperplastic polyposis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4296896[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypertrichotic osteochondrodysplasia Cantu type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795905[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834460[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypertrophic cardiomyopathy 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151204[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151264[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypertrophic cardiomyopathy 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861863[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837471[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271623[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypogonadotropic hypogonadism 11 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553844[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 13 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3541462[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypogonadotropic hypogonadism 16 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554021[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 24 without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574957[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypogonadotropic hypogonadism 3 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550478[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 4 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552343[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypogonadotropic hypogonadism 6 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552574[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 8 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553841[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypomyelinating leukodystrophy 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850053[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypophosphatemic rickets</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1704375[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypospadias 2, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677879[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypothalamic hypothyroidism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220998[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809454[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Hypotrichosis 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014616[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Hypotrichosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151432[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Ichthyosis prematurity syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837610[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Idiopathic hypereosinophilic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206141[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>IL21-related infantile inflammatory bowel disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567788[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 27A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4011949[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Immunodeficiency 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4013947[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency due to CD25 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853392[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150739[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Immunodeficiency, developmental delay, and hypohomocysteinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540293[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Infertility associated with multi-tailed spermatozoa and excessive DNA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0403812[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Inherited congenital spastic tetraplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5190693[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Insulin-dependent diabetes mellitus secretory diarrhea syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342288[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714756[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">8 tests</a></span></li><li class="bg_blue"><strong>Intellectual disability, autosomal dominant 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280282[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, autosomal recessive 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970197[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796220[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 21</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5551510[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 41</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887939[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 45</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845333[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 58</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846174[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 72</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846038[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 88</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275444[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 89</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839082[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796215[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 91</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845142[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 92</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845144[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 95</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678034[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked 96</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275408[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability, X-linked 97</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749020[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Intellectual disability, X-linked, with or without seizures, arx-related</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796244[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Intellectual disability-strabismus syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4750838[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Isolated microphthalmia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864720[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Isolated microphthalmia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5774181[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Isolated microphthalmia 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554524[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Isolated sedoheptulokinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291373[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Isolated thyroid-stimulating hormone deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271789[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Jalili syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3495589[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Joubert syndrome 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280766[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Joubert syndrome 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280897[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Joubert syndrome 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280906[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Joubert syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842577[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Joubert syndrome 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554235[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Joubert syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676771[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Kennedy disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839259[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Keutel syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855607[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Kleefstra syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551771[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Klinefelter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022735[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Koolen-de Vries syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864871[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>LCAT deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5779633[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Leber congenital amaurosis 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857743[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leber congenital amaurosis 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280062[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Leber congenital amaurosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858677[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leber congenital amaurosis 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858301[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Leber congenital amaurosis 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837873[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leber optic atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0917796[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">9 tests</a></span></li><li class="bg_blue"><strong>Left-right axis malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866091[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leigh syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931891[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">14 tests</a></span></li><li class="bg_blue"><strong>Lennox-Gastaut syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238111[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leri-Weill dyschondrosteosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265309[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Lethal multiple pterygium syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854678[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023418[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Leukocyte adhesion deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272187[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Levy-Hollister syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265269[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Limb-girdle muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0686353[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Linear skin defects with multiple congenital anomalies 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796070[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Loeys-Dietz syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553762[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Long QT syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678484[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Long QT syndrome 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150733[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Lung adenocarcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152013[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Lung cancer</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0242379[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Lymphatic malformation 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747646[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Lymphoid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023448[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">5 tests</a></span></li><li><strong>Lymphoproliferative syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554540[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Lynch syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552100[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Lysinuric protein intolerance</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268647[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Maleylacetoacetate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291607[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Malformation of cortical development</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1955869[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Malignant lymphoma, large B-cell, diffuse</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079744[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Malignant melanoma of skin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0151779[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837756[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mast cell leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023461[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Mastocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024899[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Maturity-onset diabetes of the young type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833382[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Meckel syndrome 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539714[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Medulloblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025149[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014742[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342287[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Meier-Gorlin syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151120[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Melanoma, cutaneous malignant, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835044[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>MELAS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162671[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>MERRF/MELAS overlap syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151970[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Mesoaxial synostotic syndactyly with phalangeal reduction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836206[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Metabolic disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025517[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Metatropic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265281[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Microcephaly, epilepsy, and diabetes syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280240[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Microcephaly-capillary malformation syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280296[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Microcornea-myopic chorioretinal atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809567[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Microphthalmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026010[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Microphthalmia with brain and digit anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864689[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Microphthalmia, syndromic 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796016[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Miller Dieker syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265219[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Miller syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265257[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial complex I deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838979[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">8 tests</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 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li><strong>Mitochondrial complex IV deficiency, nuclear type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435656[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Mitochondrial DNA depletion syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342782[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mitochondrial DNA depletion syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151476[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial DNA depletion syndrome, myopathic form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3149750[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mitochondrial encephalomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162666[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mitochondrial non-syndromic sensorineural hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151897[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Mixed phenotype acute leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2826025[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">5 tests</a></span></li><li><strong>Monocytopenia with susceptibility to infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280030[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Mucopolysaccharidosis type 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085132[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Mucosa-associated lymphoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0242647[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li><strong>Mulibrey nanism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0524582[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Multicentric carpo-tarsal osteolysis with or without nephropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674705[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Multiple congenital anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0000772[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">7 tests</a></span></li><li class="bg_blue"><strong>Multiple endocrine neoplasia type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970712[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Multiple myeloma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026764[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myasthenic syndrome, congenital, 1B, fast-channel</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225405[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myelodysplastic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3463824[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li><strong>Myelofibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026987[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myeloid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023470[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">4 tests</a></span></li><li><strong>Myeloproliferative disorder, chronic, with eosinophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851585[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myeloproliferative neoplasm</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1292778[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myoclonic epilepsy of Lafora 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850764[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myofibrillar myopathy 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837317[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myofibrillar myopathy 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721886[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myofibrillar myopathy 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751831[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026848[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myopathy, lactic acidosis, and sideroblastic anemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150802[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myositis disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027121[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Myostatin-related muscle hypertrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931112[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Myotonic dystrophy type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931689[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Nager syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265245[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nance-Horan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796085[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Nanophthalmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4274282[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Narcolepsy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834372[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nemaline myopathy 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854380[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Nemaline myopathy 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836472[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nemaline myopathy 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853154[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neoplasm of stomach</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0038356[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nephrolithiasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0392525[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Nephronophthisis 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3539071[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nephronophthisis-like nephropathy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150419[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Nephrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027726[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Nephrotic syndrome, type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808953[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neural tube defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027794[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Neuroblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027819[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neuroblastoma, susceptibility to, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751681[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neurodegeneration with brain iron accumulation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931845[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neurodegeneration with brain iron accumulation 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550973[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neurodegeneration with brain iron accumulation 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4517377[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neurogenic scapuloperoneal syndrome, Kaeser type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867005[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronal ceroid lipofuscinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027877[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850451[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronal ceroid lipofuscinosis 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864669[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronal ceroid lipofuscinosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751383[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838571[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronal ceroid lipofuscinosis 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838570[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864923[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronopathy, distal hereditary motor, autosomal dominant 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838492[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neuronopathy, distal hereditary motor, type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834692[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Neuronopathy, distal hereditary motor, type 2C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150619[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Neutral lipid storage myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853136[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Non-Hodgkin lymphoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024305[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">9 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028326[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Noonan-like syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834120[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Oculocutaneous albinism type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3805375[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Oculocutaneous albinism type 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808786[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Oculofaciocardiodental syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846265[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Odonto-onycho-dermal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796093[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Oguchi disease-2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150678[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Optic atrophy 10 with or without ataxia, intellectual disability, and seizures</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225227[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Orofacial cleft 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837210[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151211[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151433[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Osteogenesis imperfecta type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931093[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850169[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Osteopathia striata with cranial sclerosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432268[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Otofaciocervical syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833691[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Palmoplantar keratoderma, epidermolytic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1721006[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Pancreatic triacylglycerol lipase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280527[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Paragangliomas 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854336[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Parastremmatic dwarfism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868616[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Parietal foramina 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868599[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Parkinson disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0030567[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Parkinson disease 13, autosomal dominant, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853202[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Parkinson disease 5, autosomal dominant, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150899[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Parkinsonian-pyramidal syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850100[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Paroxysmal nonkinesigenic dyskinesia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1869117[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 14B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554055[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>PHARC syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675204[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Phelan-McDermid syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853490[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li><strong>PHGDH deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866174[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Piebaldism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0080024[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857316[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Polymicrogyria with optic nerve hypoplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750798[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pontocerebellar hypoplasia type 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843504[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Pontocerebellar hypoplasia type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553449[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pontocerebellar hypoplasia type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554209[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Pontocerebellar hypoplasia, type 1C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015160[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pontoneocerebellar hypoplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1261175[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Posterior column ataxia-retinitis pigmentosa syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836916[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Prader-Willi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032897[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li class="bg_blue"><strong>Prekallikrein deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272339[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Premature ovarian failure 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552079[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675229[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750790[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151460[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542550[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3543825[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3543826[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847554[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676235[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Primary myelofibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001815[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Progressive bulbar palsy of childhood</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015708[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836439[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Proteasome-associated autoinflammatory syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746851[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>PSAT deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970253[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pseudohypoaldosteronism type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268436[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary hypertension, primary, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888002[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pulmonary hypertension, primary, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809198[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Punctate palmoplantar keratoderma type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835662[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li class="bg_blue"><strong>Pyruvate dehydrogenase E1-alpha deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839413[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pyruvate dehydrogenase E1-beta deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279841[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Pyruvate dehydrogenase E3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574660[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Pyruvate dehydrogenase phosphatase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837429[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Qualitative or quantitative defects of dystrophin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679787[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Renal tubular dysgenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266313[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0854723[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035334[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838601[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833245[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834329[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1419614[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 30</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842816[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 31</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835923[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 36</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864621[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 42</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751986[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 44</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151068[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 46</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675496[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 48</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151190[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 49</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151059[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 54</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150691[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 55</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150808[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 57</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150821[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 58</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150879[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 59</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151227[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 61</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280041[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 66</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3715216[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842475[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinitis pigmentosa 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867300[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa, juvenile</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN260077[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Retinoblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035335[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Retinoschisis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152439[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Right isomerism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175707[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Ritscher-Schinzel syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225419[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Robinow syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265205[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Rod-cone dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551714[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Salla disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1096903[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Scalp-ear-nipple syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867020[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Schaaf-Yang syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5575066[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Schinzel phocomelia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848651[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Schnyder crystalline corneal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271287[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Seckel syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847572[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Seckel syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553582[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Senior-Loken syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836517[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Severe combined immunodeficiency due to CORO1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809383[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Severe congenital hypochromic anemia with ringed sideroblasts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808920[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Severe dermatitis-multiple allergies-metabolic wasting syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809719[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4750837[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Sex-linked hereditary disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0949683[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Short stature due to primary acid-labile subunit deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3900122[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Short stature, microcephaly, and endocrine dysfunction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225288[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Sialuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342853[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Singleton-Merten syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225380[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Smith-Magenis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795864[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Sorsby fundus dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850938[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spastic ataxia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970107[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Spastic Paraplegia 52</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN230088[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spermatogenic failure 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809427[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spermatogenic failure 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0232981[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spermatogenic failure 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751811[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spermatogenic failure 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151406[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spermatogenic failure 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151407[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar ataxia 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752125[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1963674[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858501[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846707[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752121[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 26</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836395[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836383[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0752124[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spinocerebellar ataxia type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837454[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spinocerebellar atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0087012[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">3 tests</a></span></li><li class="bg_blue"><strong>Splenic marginal zone lymphoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349632[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spondylo-megaepiphyseal-metaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750066[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spondyloepimetaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432211[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spondyloepimetaphyseal dysplasia with multiple dislocations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863732[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spondyloepimetaphyseal dysplasia, Missouri type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865832[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Spondylometaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4759767[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Spondylometaphyseal dysplasia, Sedaghatian type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855229[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>SRD5A3-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4317224[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Steinert myotonic dystrophy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3250443[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Sturge-Weber syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0038505[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Supravalvar aortic stenosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003499[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Syndactyly-telecanthus-anogenital and renal malformations syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678045[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Syndromic X-linked intellectual disability Nascimento type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275464[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Syndromic X-linked intellectual disability Snyder type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796160[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Tatton-Brown-Rahman overgrowth syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014545[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Thiopurine S-methyltransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342801[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Thrombocythemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3277671[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Thrombocythemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275998[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Thrombocytopenia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861185[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Thrombophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398623[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Thyrotoxic periodic paralysis, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750473[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Tooth agenesis, selective, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970291[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Torsion dystonia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857093[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Townes-Brocks syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479534[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Trichohepatoenteric syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281289[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Trichothiodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1955934[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Trichothiodystrophy 3, photosensitive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017171[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Trichothiodystrophy 4, nonphotosensitive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1313961[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Triosephosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860808[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</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 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Turner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0041408[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Type A2 brachydactyly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832702[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li><strong>Unverricht-Lundborg syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751785[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Urocanate hydratase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268514[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Usher syndrome type 1G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847089[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Usher syndrome type 1J</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553944[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Usher syndrome type 3A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5779850[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Usher syndrome type 3B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281066[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>UV-sensitive syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553328[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Vesicoureteral reflux 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150927[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>VEXAS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435753[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Waardenburg syndrome type 2D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837203[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Walker-Warburg congenital muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265221[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Warburg micro syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280203[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Warts, hypogammaglobulinemia, infections, and myelokathexis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472817[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Williams syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175702[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Wilson-Turner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839736[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">2 tests</a></span></li><li class="bg_blue"><strong>Winchester syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432289[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Woodhouse-Sakati syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342286[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><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 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>X-linked intellectual disability, Cantagrel type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3806730[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>X-linked intellectual disability, Stocco dos Santos type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845530[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Xanthinuria type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863688[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li class="bg_blue"><strong>Xeroderma pigmentosum variant type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848410[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">1 test</a></span></li><li><strong>Zellweger spectrum disorders</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043459[DISCUI] AND 202248[ORGID]" ref="ncbi_uid=202248">8 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, <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_1">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_1">Familial variant analysis</div></li><li>Prenatal testing, <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_2">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_2">NIPT, WES, aCGH, Karyotype</div></li><li>Custom Sequence Analysis, <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_3">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_3">NGS panels</div></li><li>Genetic counseling</li><li>Whole Exome Sequencing</li><li>Whole Genome Sequencing</li><li>Cytogenetics</li><li>Oncogenetics</li><li>Pharmaceutical Clinical trials</li><li>Pharmacogenomics</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>99D1066287, <strong>Expiration date: </strong>2024-10-31</li><li>EMQN, <strong>Number: </strong>n.a.</li><li>ISO15189, <strong>Number: </strong>E0020</li><li>International Organization for Standardization 9001: 2015, ISO 9, <strong>Number: </strong>certificate PT007758, <strong>Expiration date: </strong>2025-10-12</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>ISCA Consortium (International Standards for Cytogenomic Arrays)</li><li>Locus-specific Databases</li><li>Mutation-specific Databases</li></ul><h3>Data exchange Programs</h3><ul class="bullet_list"><li>ICCG (International Collaboration for Clinical Genetics) - Previously ISCA</li><li>Mutation-specific Databases</li></ul></div></div></div></div></div>
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<div class="gtr-disclaimer col twelve_col last">
<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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<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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