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GTR Home > Laboratories > Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory

GTR Lab ID: 1237, Last updated:2023-01-05

Personnel

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 3-Methylglutaconic aciduria type 28 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia3 tests
  • 46,xx sex reversal 51 test
  • 46,XY sex reversal 91 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 7q11.23 microduplication syndrome1 test
  • Acquired hemoglobin H disease2 tests
  • Acquired polycythemia vera3 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome2 tests
  • Acrocephalosyndactyly type I1 test
  • Acromicric dysplasia1 test
  • Actin accumulation myopathy1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute lymphoid leukemia2 tests
  • Acute megakaryoblastic leukemia1 test
  • Acute myeloid leukemia7 tests
  • Acute promyelocytic leukemia1 test
  • Acyl-CoA dehydrogenase 9 deficiency4 tests
  • Adams-Oliver syndrome 53 tests
  • Adult hypophosphatasia1 test
  • Adult polyglucosan body disease1 test
  • ADULT syndrome1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Age related macular degeneration 21 test
  • Age related macular degeneration 41 test
  • Agnathia-otocephaly complex1 test
  • Alagille syndrome due to a JAG1 point mutation5 tests
  • Alagille syndrome due to a NOTCH2 point mutation4 tests
  • ALDH18A1-related de Barsy syndrome2 tests
  • ALG8 congenital disorder of glycosylation2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome2 tests
  • Alpha-1-antitrypsin deficiency3 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alstrom syndrome3 tests
  • Alternating hemiplegia of childhood 21 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
  • Ambiguous genitalia1 test
  • Amyloidogenic transthyretin amyloidosis3 tests
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome4 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Aneurysm-osteoarthritis syndrome2 tests
  • Angelman syndrome2 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 41 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to1 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • aortic root dilation1 test
  • Aortic valve disease 13 tests
  • Aortic valve disease 21 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic cardiomyopathy2 tests
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma5 tests
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 115 tests
  • Arrhythmogenic right ventricular dysplasia 124 tests
  • Arrhythmogenic right ventricular dysplasia 132 tests
  • Arrhythmogenic right ventricular dysplasia 23 tests
  • Arrhythmogenic right ventricular dysplasia 53 tests
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 95 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 13 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 23 tests
  • Ataxia-pancytopenia syndrome1 test
  • Ataxia-telangiectasia syndrome5 tests
  • Atelosteogenesis type I1 test
  • Atelosteogenesis type III1 test
  • Atrial fibrillation1 test
  • Atrial fibrillation, familial, 108 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 151 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 72 tests
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 22 tests
  • Atrial septal defect 42 tests
  • Atrial septal defect 52 tests
  • Atrial septal defect 73 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 93 tests
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrioventricular block1 test
  • Atrioventricular septal defect 32 tests
  • Atrioventricular septal defect 42 tests
  • Atrioventricular septal defect 53 tests
  • Atrioventricular septal defect, susceptibility to, 22 tests
  • Atypical hemolytic-uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
  • Auditory neuropathy, autosomal recessive, 11 test
  • Autism spectrum disorder1 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency3 tests
  • Autoimmune lymphoproliferative syndrome type 16 tests
  • Autoimmune lymphoproliferative syndrome type 2A3 tests
  • Autoimmune lymphoproliferative syndrome type 2B3 tests
  • Autoimmune lymphoproliferative syndrome type 48 tests
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b3 tests
  • Autosomal dominant aplasia and myelodysplasia3 tests
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2 tests
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 114 tests
  • Autosomal dominant nonsyndromic hearing loss 172 tests
  • Autosomal dominant nonsyndromic hearing loss 224 tests
  • Autosomal dominant nonsyndromic hearing loss 233 tests
  • Autosomal dominant nonsyndromic hearing loss 363 tests
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
  • Autosomal recessive amelia1 test
  • Autosomal recessive complex spastic paraplegia type 9B2 tests
  • Autosomal recessive distal renal tubular acidosis1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
  • Autosomal recessive nonsyndromic hearing loss 124 tests
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A4 tests
  • Autosomal recessive nonsyndromic hearing loss 1A5 tests
  • Autosomal recessive nonsyndromic hearing loss 1B2 tests
  • Autosomal recessive nonsyndromic hearing loss 24 tests
  • Autosomal recessive nonsyndromic hearing loss 234 tests
  • Autosomal recessive nonsyndromic hearing loss 314 tests
  • Autosomal recessive nonsyndromic hearing loss 373 tests
  • Autosomal recessive nonsyndromic hearing loss 47 tests
  • Autosomal recessive nonsyndromic hearing loss 63 tests
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive nonsyndromic hearing loss 73 tests
  • Autosomal recessive nonsyndromic hearing loss 83 tests
  • Autosomal recessive nonsyndromic hearing loss 93 tests
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency4 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • B-cell chronic lymphocytic leukemia4 tests
  • Bannayan-Riley-Ruvalcaba syndrome3 tests
  • Baraitser-Winter syndrome 12 tests
  • Baraitser-winter syndrome 21 test
  • Bardet-Biedl syndrome 12 tests
  • Bardet-Biedl syndrome 102 tests
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 22 tests
  • Bare lymphocyte syndrome type 2, complementation group A2 tests
  • Bartter disease type 31 test
  • Bartter disease type 4B1 test
  • Basal laminar drusen2 tests
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 13 tests
  • Benign recurrent intrahepatic cholestasis type 24 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy4 tests
  • Bernard Soulier syndrome3 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Beta thalassemia intermedia1 test
  • Beta-thalassemia major1 test
  • Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
  • Bifunctional peroxisomal enzyme deficiency2 tests
  • Bile acid CoA ligase deficiency and defective amidation1 test
  • Bile acid malabsorption, primary3 tests
  • Bilirubin, serum level of, quantitative trait locus 11 test
  • Blau syndrome1 test
  • Bleeding diathesis due to thromboxane synthesis deficiency1 test
  • Bleeding disorder, platelet-type, 211 test
  • Blepharophimosis - intellectual disability syndrome, MKB type1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Bloom syndrome4 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
  • Bone marrow failure syndrome 34 tests
  • Bone marrow failure syndrome 43 tests
  • Bone marrow failure syndrome 52 tests
  • Boomerang dysplasia1 test
  • Brachyolmia-amelogenesis imperfecta syndrome2 tests
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Brain-lung-thyroid syndrome1 test
  • Branchiootic syndrome 11 test
  • Branchiootic syndrome 34 tests
  • Branchiootorenal syndrome 14 tests
  • Branchiootorenal syndrome 24 tests
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Brittle cornea syndrome 12 tests
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Brown-Vialetto-van Laere syndrome 13 tests
  • Brown-Vialetto-van Laere syndrome 23 tests
  • Brugada syndrome2 tests
  • Brugada syndrome 18 tests
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 81 test
  • C3 deficiency1 test
  • Café-au-lait macules with pulmonary stenosis1 test
  • Candidiasis, familial, 61 test
  • Capillary malformation-arteriovenous malformation 13 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome1 test
  • Cardiac arrhythmia2 tests
  • Cardiac arrhythmia, ankyrin-B-related3 tests
  • Cardiac defects1 test
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardiofaciocutaneous syndrome 14 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 33 tests
  • Cardiofaciocutaneous syndrome 44 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis3 tests
  • Cardiomyopathy, familial hypertrophic 272 tests
  • Cardiomyopathy, familial restrictive, 13 tests
  • Cardiomyopathy, familial restrictive, 34 tests
  • Carnitine acylcarnitine translocase deficiency4 tests
  • Carnitine palmitoyl transferase 1A deficiency3 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form4 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form5 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form3 tests
  • Carnitine palmitoyltransferase II deficiency2 tests
  • Carotid intimal medial thickness 12 tests
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • Cataract 381 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • Catecholaminergic polymorphic ventricular tachycardia 17 tests
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia 32 tests
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 54 tests
  • Catel-Manzke syndrome1 test
  • Caveolinopathy1 test
  • CBL-related disorder4 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebroretinal microangiopathy with calcifications and cysts 14 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 23 tests
  • Cernunnos-XLF deficiency4 tests
  • CFHR5 deficiency3 tests
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4K1 test
  • CHARGE association4 tests
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • Cholestanol storage disease3 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 32 tests
  • Cholestasis, progressive familial intrahepatic, 44 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesteryl ester storage disease1 test
  • Chondrosarcoma1 test
  • Chorea-acanthocytosis1 test
  • Chromosome 13q trisomy1 test
  • Chronic familial neutropenia1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive2 tests
  • Chronic pancreatitis1 test
  • chronic recurrent pancreatitis1 test
  • Chédiak-Higashi syndrome5 tests
  • Ciliary dyskinesia, primary, 36, X-linked2 tests
  • Ciliary dyskinesia, primary, 372 tests
  • Ciliary dyskinesia, primary, 382 tests
  • Ciliary dyskinesia, primary, 392 tests
  • Ciliary dyskinesia, primary, 402 tests
  • Ciliary dyskinesia, primary, 412 tests
  • Ciliopathy1 test
  • Citrullinemia type II3 tests
  • Classic homocystinuria2 tests
  • Cleidocranial dysostosis1 test
  • CLOVES syndrome1 test
  • COACH syndrome 21 test
  • Cobalamin C disease1 test
  • Coffin-Siris syndrome1 test
  • Cohen syndrome4 tests
  • Combined immunodeficiency due to DOCK8 deficiency3 tests
  • Combined immunodeficiency due to LRBA deficiency3 tests
  • Combined immunodeficiency due to moesin deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency3 tests
  • Combined immunodeficiency due to STIM1 deficiency5 tests
  • Combined immunodeficiency due to STK4 deficiency5 tests
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with skin granulomas4 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 172 tests
  • Combined oxidative phosphorylation defect type 82 tests
  • Combined pulmonary fibrosis-emphysema syndrome1 test
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency2 tests
  • Complement component 5 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement factor b deficiency1 test
  • Complete trisomy 21 syndrome1 test
  • Cone-rod dystrophy 31 test
  • Congenital afibrinogenemia1 test
  • Congenital amegakaryocytic thrombocytopenia3 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital bile acid synthesis defect 14 tests
  • Congenital bile acid synthesis defect 24 tests
  • Congenital bile acid synthesis defect 34 tests
  • Congenital bile acid synthesis defect 43 tests
  • Congenital bile acid synthesis defect 53 tests
  • Congenital chromosomal disease1 test
  • Congenital contractural arachnodactyly2 tests
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia type 43 tests
  • Congenital dyserythropoietic anemia, type I6 tests
  • Congenital dyserythropoietic anemia, type II4 tests
  • Congenital dyserythropoietic anemia, type III3 tests
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 42 tests
  • Congenital heart defects, multiple types, 51 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital heart disease2 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microvillous atrophy2 tests
  • Congenital muscular dystrophy due to LMNA mutation3 tests
  • Congenital myasthenic syndrome 161 test
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome3 tests
  • Congenital neutropenia2 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome4 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Conotruncal anomaly face syndrome2 tests
  • Conotruncal heart malformations4 tests
  • Cornelia de Lange syndrome 11 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome4 tests
  • Cowden syndrome3 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 51 test
  • Coxopodopatellar syndrome2 tests
  • Cranioectodermal dysplasia 21 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome3 tests
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome1 test
  • Curry-Hall syndrome3 tests
  • Cutis laxa, autosomal dominant 13 tests
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal dominant 32 tests
  • Cutis laxa, autosomal recessive, type 1A2 tests
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cyclical neutropenia3 tests
  • Cystic fibrosis2 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
  • Danon disease6 tests
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness, digenic, GJB2/GJB61 test
  • Deafness-lymphedema-leukemia syndrome2 tests
  • Defect of purinergic receptor p2y G protein-coupled 121 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase3 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Dehydrated hereditary stomatocytosis 23 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • delta Thalassemia1 test
  • Desmin-related myofibrillar myopathy6 tests
  • Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diamond-Blackfan anemia7 tests
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 103 tests
  • Diamond-Blackfan anemia 113 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 172 tests
  • Diamond-Blackfan anemia 181 test
  • Diamond-Blackfan anemia 192 tests
  • Diamond-Blackfan anemia 201 test
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 53 tests
  • Diamond-Blackfan anemia 63 tests
  • Diamond-Blackfan anemia 73 tests
  • Diamond-Blackfan anemia 83 tests
  • Diamond-Blackfan anemia 93 tests
  • Diamond-Blackfan anemia-like1 test
  • Diaphragmatic hernia 31 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1A6 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C4 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1D5 tests
  • Dilated cardiomyopathy 1DD3 tests
  • Dilated cardiomyopathy 1E8 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G5 tests
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH3 tests
  • Dilated cardiomyopathy 1I3 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1J2 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK2 tests
  • Dilated cardiomyopathy 1L3 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN4 tests
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P4 tests
  • Dilated cardiomyopathy 1R5 tests
  • Dilated cardiomyopathy 1S5 tests
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X3 tests
  • Dilated cardiomyopathy 1Y3 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A2 tests
  • Dilated cardiomyopathy 2B3 tests
  • Dilated cardiomyopathy 3B3 tests
  • Dilated cardiomyopathy with left ventricular noncompaction1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Disorder due cytochrome p450 CYP2C19 variant2 tests
  • Disorder due cytochrome p450 CYP2D6 variant4 tests
  • Distal monosomy 10p2 tests
  • Distal myopathy with posterior leg and anterior hand involvement5 tests
  • Distichiasis-lymphedema syndrome1 test
  • DK1-congenital disorder of glycosylation2 tests
  • DNA ligase IV deficiency4 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin1 test
  • Double outlet right ventricle1 test
  • Drash syndrome1 test
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome3 tests
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita1 test
  • Dyskeratosis congenita, autosomal dominant 14 tests
  • Dyskeratosis congenita, autosomal dominant 24 tests
  • Dyskeratosis congenita, autosomal dominant 33 tests
  • Dyskeratosis congenita, autosomal dominant 42 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal recessive 13 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive 34 tests
  • Dyskeratosis congenita, autosomal recessive 54 tests
  • Dyskeratosis congenita, autosomal recessive 63 tests
  • Dyskeratosis congenita, X-linked4 tests
  • Dyslexia, susceptibility to, 11 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 92 tests
  • Early repolarization associated with ventricular fibrillation1 test
  • Early-onset myopathy with fatal cardiomyopathy5 tests
  • EAST syndrome3 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectopia lentis 1, isolated, autosomal dominant2 tests
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • Eculizumab, poor response to2 tests
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, arthrochalasis type4 tests
  • Ehlers-Danlos syndrome, cardiac valvular type3 tests
  • Ehlers-Danlos syndrome, classic type4 tests
  • Ehlers-Danlos syndrome, classic type, 21 test
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 11 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 43 tests
  • Elliptocytosis 14 tests
  • Elliptocytosis 24 tests
  • Elliptocytosis 34 tests
  • Ellis-van Creveld syndrome3 tests
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalopathy1 test
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Epidermolysis bullosa16 tests
  • Epidermolysis bullosa dystrophica3 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex10 tests
  • Epidermolysis bullosa simplex 1C, localized2 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia3 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss2 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Erythrocytosis2 tests
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 53 tests
  • Erythrokeratodermia variabilis et progressiva 31 test
  • Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency1 test
  • Exostoses, multiple, type 21 test
  • Exudative vitreoretinopathy 41 test
  • Fabry disease4 tests
  • Factor H deficiency2 tests
  • Factor VII deficiency1 test
  • FADD-related immunodeficiency2 tests
  • Familial acute necrotizing encephalopathy1 test
  • Familial apolipoprotein C-II deficiency1 test
  • Familial cancer of breast1 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
  • Familial erythrocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 23 tests
  • Familial hemophagocytic lymphohistiocytosis 33 tests
  • Familial hemophagocytic lymphohistiocytosis 43 tests
  • Familial hemophagocytic lymphohistiocytosis 53 tests
  • Familial hypercholesterolemia2 tests
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial Mediterranean fever1 test
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial melanoma2 tests
  • Familial meningioma1 test
  • Familial partial lipodystrophy, Kobberling type1 test
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial restrictive cardiomyopathy2 tests
  • Familial thoracic aortic aneurysm and aortic dissection3 tests
  • Familial visceral amyloidosis, Ostertag type1 test
  • Fanconi anemia3 tests
  • Fanconi anemia complementation group A5 tests
  • Fanconi anemia complementation group B5 tests
  • Fanconi anemia complementation group C5 tests
  • Fanconi anemia complementation group D13 tests
  • Fanconi anemia complementation group D25 tests
  • Fanconi anemia complementation group E5 tests
  • Fanconi anemia complementation group F5 tests
  • Fanconi anemia complementation group G5 tests
  • Fanconi anemia complementation group I5 tests
  • Fanconi anemia complementation group J5 tests
  • Fanconi anemia complementation group L5 tests
  • Fanconi anemia complementation group N5 tests
  • Fanconi anemia complementation group O5 tests
  • Fanconi anemia complementation group P5 tests
  • Fanconi anemia complementation group Q5 tests
  • Fanconi anemia complementation group R4 tests
  • Fanconi anemia complementation group T4 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi anemia complementation group V3 tests
  • Fanconi anemia, complementation group M1 test
  • Fanconi anemia, complementation group S3 tests
  • Fanconi anemia, complementation group W3 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi-Bickel syndrome4 tests
  • Febrile seizures, familial, 3a1 test
  • Feingold syndrome type 11 test
  • Fetal and neonatal alloimmune thrombocytopenia1 test
  • Fetal growth restriction1 test
  • Fetal hemoglobin quantitative trait locus 11 test
  • FG syndrome 11 test
  • FGFR2-related bent bone dysplasia1 test
  • Floating-Harbor syndrome1 test
  • Forebrain defects1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Fructose-biphosphatase deficiency2 tests
  • Gallbladder disease 41 test
  • Gamma-glutamylcysteine synthetase deficiency4 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis4 tests
  • Gaucher disease1 test
  • Geleophysic dysplasia 21 test
  • Geleophysic dysplasia 32 tests
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized juvenile polyposis/juvenile polyposis coli1 test
  • Genitopatellar syndrome3 tests
  • Ghosal hematodiaphyseal dysplasia1 test
  • Gilbert syndrome1 test
  • Gilbert syndrome, susceptibility to1 test
  • Glanzmann thrombasthenia3 tests
  • Global developmental delay1 test
  • Glucocorticoid deficiency 51 test
  • Glucose-6-phosphate transport defect6 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria4 tests
  • Gluthathione peroxidase deficiency4 tests
  • Gluthathione synthetase deficiency2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency3 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency3 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency5 tests
  • Glycogen storage disease IXa13 tests
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc3 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II5 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V3 tests
  • Glycogen storage disease, type VI3 tests
  • Glycogen storage disease, type VII6 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency3 tests
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • Granulocytopenia with immunoglobulin abnormality2 tests
  • Granulomatous disease, chronic, X-linked1 test
  • Gray platelet syndrome1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 25 tests
  • Griscelli syndrome type 31 test
  • Growth failure1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • Hajdu-Cheney syndrome2 tests
  • Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Helicobacter pylori infection, susceptibility to1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemoglobin H disease1 test
  • Hemoglobin, high altitude adaptation1 test
  • Hemolytic anemia3 tests
  • Hemolytic anemia due to adenylate kinase deficiency4 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency4 tests
  • Hemolytic anemia due to hexokinase deficiency4 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency4 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hepatitis B virus, susceptibility to1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary coproporphyria1 test
  • Hereditary disease1 test
  • Hereditary elliptocytosis4 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria4 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
  • Hereditary non-spherocytic hemolytic anemia2 tests
  • Hereditary pancreatitis6 tests
  • Hereditary spastic paraplegia 5A2 tests
  • Hereditary spastic paraplegia 9A2 tests
  • Hereditary spherocytosis type 14 tests
  • Hereditary spherocytosis type 24 tests
  • Hereditary spherocytosis type 34 tests
  • Hereditary spherocytosis type 44 tests
  • Hereditary spherocytosis type 54 tests
  • Hereditary stomatocytosis2 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 103 tests
  • Hermansky-Pudlak syndrome 25 tests
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 92 tests
  • Herpes simplex encephalitis, susceptibility to, 11 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy2 tests
  • Heterotaxy, visceral, 1, X-linked2 tests
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 5, autosomal2 tests
  • Heterotaxy, visceral, 6, autosomal2 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Heterotopia, periventricular, X-linked dominant2 tests
  • Histiocytic medullary reticulosis7 tests
  • HNSHA due to aldolase A deficiency6 tests
  • Holt-Oram syndrome3 tests
  • HSD10 mitochondrial disease3 tests
  • Huntington disease-like 21 test
  • Hutchinson-Gilford syndrome4 tests
  • Hydrolethalus syndrome 22 tests
  • Hydrops fetalis, alpha-thalassemia-related1 test
  • Hyper-IgE recurrent infection syndrome 12 tests
  • Hyper-IgM syndrome type 14 tests
  • Hypercalciuric hypercalcemia1 test
  • Hypercholanemia, familial 18 tests
  • Hypercholanemia, familial, 21 test
  • Hypercholesterolemia1 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I1 test
  • Hyperlysinemia1 test
  • Hyperphenylalaninemia due to DNAJC12 deficiency1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy2 tests
  • Hypertrophic cardiomyopathy 15 tests
  • Hypertrophic cardiomyopathy 103 tests
  • Hypertrophic cardiomyopathy 114 tests
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 162 tests
  • Hypertrophic cardiomyopathy 173 tests
  • Hypertrophic cardiomyopathy 183 tests
  • Hypertrophic cardiomyopathy 23 tests
  • Hypertrophic cardiomyopathy 202 tests
  • Hypertrophic cardiomyopathy 253 tests
  • Hypertrophic cardiomyopathy 265 tests
  • Hypertrophic cardiomyopathy 32 tests
  • Hypertrophic cardiomyopathy 43 tests
  • Hypertrophic cardiomyopathy 63 tests
  • Hypertrophic cardiomyopathy 72 tests
  • Hypertrophic cardiomyopathy 82 tests
  • Hypertrophic cardiomyopathy 95 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis, type 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypoplastic left heart syndrome 12 tests
  • Hypoplastic left heart syndrome 23 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotrichosis 22 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Immunodeficiency 10411 tests
  • Immunodeficiency 142 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 18, severe combined immunodeficiency variant2 tests
  • Immunodeficiency 191 test
  • Immunodeficiency 231 test
  • Immunodeficiency 252 tests
  • Immunodeficiency 27A5 tests
  • Immunodeficiency 31B1 test
  • Immunodeficiency 351 test
  • Immunodeficiency 492 tests
  • Immunodeficiency 641 test
  • Immunodeficiency 662 tests
  • Immunodeficiency 671 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency due to ficolin3 deficiency1 test
  • Immunodeficiency, common variable, 11 test
  • Immunodeficiency, common variable, 101 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 31 test
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, common variable, 51 test
  • Immunodeficiency, common variable, 61 test
  • Immunodeficiency, common variable, 71 test
  • Immunoglobulin A deficiency 21 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inborn disorder of bile acid synthesis1 test
  • Inborn error of immunity1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Infantile cortical hyperostosis2 tests
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Infantile liver failure1 test
  • Infantile nephronophthisis3 tests
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Insomnia1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal recessive 51 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 12 tests
  • Intracerebral hemorrhage1 test
  • Invasive pneumococcal disease, recurrent isolated1 test
  • Ischemic stroke1 test
  • Isolated neonatal sclerosing cholangitis1 test
  • Jackson-Weiss syndrome1 test
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome4 tests
  • Joubert syndrome 102 tests
  • Joubert syndrome 181 test
  • Joubert syndrome 22 tests
  • Joubert syndrome 201 test
  • Joubert syndrome 242 tests
  • Joubert syndrome 282 tests
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect1 test
  • Junctional epidermolysis bullosa3 tests
  • Junctional epidermolysis bullosa gravis of Herlitz6 tests
  • Junctional epidermolysis bullosa with pyloric atresia3 tests
  • Junctional epidermolysis bullosa, non-Herlitz type9 tests
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Kallikrein, decreased urinary activity of1 test
  • Kartagener syndrome2 tests
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis palmoplantaris striata 22 tests
  • Keutel syndrome1 test
  • Kindler syndrome3 tests
  • Klinefelter syndrome1 test
  • Kostmann syndrome2 tests
  • L-ferritin deficiency1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Langereis blood group1 test
  • Langerhans cell histiocytosis1 test
  • Larsen syndrome1 test
  • Larsen-like syndrome, B3GAT3 type1 test
  • Laryngo-onycho-cutaneous syndrome2 tests
  • Lateral meningocele syndrome1 test
  • Lazy leukocyte syndrome1 test
  • Leaky severe combined immune deficiency1 test
  • Left ventricular noncompaction3 tests
  • Left ventricular noncompaction 13 tests
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Legius syndrome3 tests
  • Leigh syndrome2 tests
  • LEOPARD syndrome 15 tests
  • LEOPARD syndrome 25 tests
  • LEOPARD syndrome 33 tests
  • Leri-Weill dyschondrosteosis1 test
  • Lethal acantholytic epidermolysis bullosa3 tests
  • Lethal congenital glycogen storage disease of heart5 tests
  • Lethal tight skin contracture syndrome2 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 31 test
  • Leukoencephalopathy, progressive, with ovarian failure1 test
  • Levy-Hollister syndrome1 test
  • Lhermitte-Duclos disease2 tests
  • Li-Fraumeni syndrome 11 test
  • Limb-mammary syndrome1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 42 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Long QT syndrome3 tests
  • Long QT syndrome 13 tests
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 152 tests
  • Long QT syndrome 22 tests
  • Long QT syndrome 38 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long qt syndrome 81 test
  • Long QT syndrome 92 tests
  • Lucey-Driscoll syndrome1 test
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;3 tests
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 23 tests
  • Lysinuric protein intolerance3 tests
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly-autism syndrome2 tests
  • Macroglobulinemia, Waldenstrom, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
  • Macular degeneration, age-related, 31 test
  • Majeed syndrome4 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Marfan syndrome4 tests
  • MASS syndrome2 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 141 test
  • Maturity-onset diabetes of the young type 33 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 82 tests
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome4 tests
  • Meckel syndrome, type 13 tests
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 62 tests
  • Meckel syndrome, type 81 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
  • Meester-Loeys syndrome2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • MEGF8-related Carpenter syndrome2 tests
  • Melanoma3 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Menke-Hennekam syndrome 11 test
  • Metachondromatosis1 test
  • Metaphyseal chondrodysplasia, McKusick type3 tests
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Methemoglobinemia type 21 test
  • Methemoglobinemia, type I1 test
  • Methylmalonic acidemia3 tests
  • Mevalonic aciduria1 test
  • MHC class I deficiency3 tests
  • MHC class II deficiency9 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephaly, normal intelligence and immunodeficiency4 tests
  • Microcytic anemia1 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microvascular complications of diabetes, susceptibility to, 21 test
  • Migraine, familial hemiplegic, 31 test
  • Miller Dieker syndrome1 test
  • MIRAGE syndrome1 test
  • Mirror movements 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 102 tests
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 33 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mitochondrial trifunctional protein deficiency6 tests
  • Monocytopenia with susceptibility to infections3 tests
  • MPI-congenital disorder of glycosylation2 tests
  • MTHFR THERMOLABILE POLYMORPHISM2 tests
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Multiple acyl-CoA dehydrogenase deficiency8 tests
  • Multiple congenital anomalies1 test
  • Multiple congenital exostosis1 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple epiphyseal dysplasia, Al-Gazali type2 tests
  • Multiple gastrointestinal atresias3 tests
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • Mycobacterium tuberculosis, susceptibility to1 test
  • Myelodysplastic syndrome3 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • MYH7-related skeletal myopathy1 test
  • Myhre syndrome2 tests
  • Myoclonic dystonia 111 test
  • Myofibrillar myopathy 23 tests
  • Myofibrillar myopathy 55 tests
  • Myofibrillar myopathy 63 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy, centronuclear, 51 test
  • Myopathy, myofibrillar, 9, with early respiratory failure5 tests
  • Myopathy, myosin storage, autosomal recessive3 tests
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopathy, tubular aggregate, 12 tests
  • Myopia 61 test
  • Myosin storage myopathy2 tests
  • MYPN-related myopathy1 test
  • Navajo neurohepatopathy2 tests
  • Naxos disease5 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency3 tests
  • Neonatal severe primary hyperparathyroidism1 test
  • Nephroblastoma1 test
  • Nephronophthisis1 test
  • Nephronophthisis 12 tests
  • Nephronophthisis 162 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 32 tests
  • Nephronophthisis 41 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome3 tests
  • Nephrotic syndrome, type 21 test
  • Neurofibromatosis, familial spinal2 tests
  • Neurofibromatosis, type 14 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome2 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neutropenia, severe congenital, 1, autosomal dominant3 tests
  • Neutropenia, severe congenital, 2, autosomal dominant4 tests
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome5 tests
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C1, juvenile form1 test
  • Niemann-Pick disease, type C22 tests
  • Nonpapillary renal cell carcinoma2 tests
  • Noonan syndrome2 tests
  • Noonan syndrome 15 tests
  • Noonan syndrome 102 tests
  • Noonan syndrome 22 tests
  • Noonan syndrome 33 tests
  • Noonan syndrome 44 tests
  • Noonan syndrome 55 tests
  • Noonan syndrome 63 tests
  • Noonan syndrome 73 tests
  • Noonan syndrome 83 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with loose anagen hair 14 tests
  • Noonan syndrome-like disorder with loose anagen hair 22 tests
  • Noonan-like syndrome1 test
  • NPHP3-related Meckel-like syndrome3 tests
  • Obesity2 tests
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome2 tests
  • Oculootoradial syndrome1 test
  • Odontohypophosphatasia1 test
  • Olmsted syndrome, X-linked1 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Orofacial cleft 81 test
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 141 test
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III5 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form5 tests
  • Osteogenesis imperfecta, recessive perinatal lethal5 tests
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Pallister-Hall syndrome1 test
  • Pancreatic agenesis 11 test
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
  • Pancytopenia due to IKZF1 mutations1 test
  • Pancytopenia-developmental delay syndrome2 tests
  • Papillary thyroid carcinoma1 test
  • Paramyotonia congenita of Von Eulenburg1 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Peeling skin syndrome 15 tests
  • Pendred syndrome4 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome2 tests
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 10B1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Perrault syndrome 11 test
  • Persistent fetal circulation syndrome1 test
  • Pfeiffer syndrome1 test
  • PGM1-congenital disorder of glycosylation2 tests
  • Pheochromocytoma1 test
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
  • Pigmentary pallidal degeneration1 test
  • Pituitary dependent hypercortisolism1 test
  • Plasminogen deficiency, type I3 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1 test
  • Platelet disorder, undefined1 test
  • Platelet-type bleeding disorder 101 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 82 tests
  • Poikiloderma with neutropenia4 tests
  • POLG-related disorders1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease 52 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease2 tests
  • Polycystic liver disease 13 tests
  • Polycystic liver disease 22 tests
  • Polycystic liver disease 3 with or without kidney cysts1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polydactyly, postaxial, type A11 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body myopathy type 21 test
  • Polysyndactyly 41 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Postmenopausal osteoporosis2 tests
  • Potassium-aggravated myotonia1 test
  • PPARG-related familial partial lipodystrophy3 tests
  • Prader-Willi syndrome2 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Preeclampsia1 test
  • Prekallikrein deficiency1 test
  • Pretibial dystrophic epidermolysis bullosa1 test
  • Primary CD59 deficiency2 tests
  • Primary ciliary dyskinesia 102 tests
  • Primary ciliary dyskinesia 112 tests
  • Primary ciliary dyskinesia 122 tests
  • Primary ciliary dyskinesia 132 tests
  • Primary ciliary dyskinesia 142 tests
  • Primary ciliary dyskinesia 152 tests
  • Primary ciliary dyskinesia 162 tests
  • Primary ciliary dyskinesia 172 tests
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 192 tests
  • Primary ciliary dyskinesia 22 tests
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 212 tests
  • Primary ciliary dyskinesia 221 test
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary ciliary dyskinesia 262 tests
  • Primary ciliary dyskinesia 272 tests
  • Primary ciliary dyskinesia 282 tests
  • Primary ciliary dyskinesia 292 tests
  • Primary ciliary dyskinesia 32 tests
  • Primary ciliary dyskinesia 302 tests
  • Primary ciliary dyskinesia 322 tests
  • Primary ciliary dyskinesia 332 tests
  • Primary ciliary dyskinesia 342 tests
  • Primary ciliary dyskinesia 352 tests
  • Primary ciliary dyskinesia 52 tests
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 72 tests
  • Primary ciliary dyskinesia 92 tests
  • Primary dilated cardiomyopathy9 tests
  • Primary familial hypertrophic cardiomyopathy6 tests
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria type 31 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary immunodeficiency syndrome due to p14 deficiency4 tests
  • Primary myelofibrosis3 tests
  • Primary sclerosing cholangitis2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
  • Progressive external ophthalmoplegia2 tests
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis2 tests
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 24 tests
  • Progressive familial intrahepatic cholestasis type 34 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Prolactin-producing pituitary gland adenoma1 test
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia2 tests
  • Prostate cancer, hereditary, 21 test
  • Protein-losing enteropathy1 test
  • Proximal myopathy with extrapyramidal signs1 test
  • Pseudo von Willebrand disease1 test
  • Pulmonary arterial hypertension1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
  • Pulmonary fibrosis-emphysema2 tests
  • Pulmonary hypertension, primary, 12 tests
  • Pulmonary hypertension, primary, 21 test
  • Pulmonary hypertension, primary, 31 test
  • Pulmonary hypertension, primary, 41 test
  • Pulmonary venoocclusive disease 1, autosomal dominant2 tests
  • Purine-nucleoside phosphorylase deficiency3 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyogenic bacterial infections due to MyD88 deficiency1 test
  • Pyropoikilocytosis, hereditary2 tests
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate kinase deficiency of red cells4 tests
  • Pyruvate kinase hyperactivity2 tests
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
  • RASGRP1 deficiency1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Recurrent Neisseria infections due to factor D deficiency3 tests
  • Reduced generation of multiple motile cilia (RGMC)1 test
  • Renal carnitine transport defect4 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome2 tests
  • Reticular dysgenesis5 tests
  • Retinal arterial tortuosity1 test
  • Retinal dystrophy with leukodystrophy1 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 232 tests
  • Retinitis pigmentosa 394 tests
  • Retinitis pigmentosa 614 tests
  • Retinitis pigmentosa 742 tests
  • Retinoblastoma1 test
  • Rett syndrome2 tests
  • Revesz syndrome1 test
  • Rh-null, regulator type4 tests
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • RIDDLE syndrome2 tests
  • Rienhoff syndrome1 test
  • Right atrial isomerism1 test
  • Robinow-Sorauf syndrome1 test
  • Rubinstein-Taybi syndrome1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations2 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Saethre-Chotzen syndrome2 tests
  • Schimke immuno-osseous dysplasia1 test
  • Schuurs-Hoeijmakers syndrome1 test
  • Schwannomatosis 12 tests
  • SCOTT SYNDROME1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 13 tests
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 11 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Severe combined immunodeficiency disease3 tests
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to CTPS1 deficiency2 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency due to DNA-PKcs deficiency3 tests
  • Severe combined immunodeficiency due to LAT deficiency2 tests
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe congenital neutropenia2 tests
  • Severe early-childhood-onset retinal dystrophy1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Short QT syndrome1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 23 tests
  • Short QT syndrome type 31 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 15 tests
  • Shwachman-Diamond syndrome 22 tests
  • Sick sinus syndrome 2, autosomal dominant2 tests
  • Sideroblastic anemia 22 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Simpson-Golabi-Behmel syndrome type 22 tests
  • Sitosterolemia7 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome2 tests
  • Smith-Lemli-Opitz syndrome2 tests
  • Smith-Magenis syndrome3 tests
  • Sneddon syndrome1 test
  • Somatotroph adenoma1 test
  • Sotos syndrome1 test
  • Sotos syndrome 12 tests
  • Southeast Asian ovalocytosis1 test
  • Specific granule deficiency 22 tests
  • Spermatogenic failure 182 tests
  • Spermatogenic failure 272 tests
  • Spermatogenic failure 461 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia type 271 test
  • Split hand-foot malformation 41 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Sterol carrier protein 2 deficiency2 tests
  • Stickler syndrome type 12 tests
  • Stiff skin syndrome1 test
  • STING-associated vasculopathy with onset in infancy1 test
  • Storage pool disease of platelets1 test
  • Stormorken syndrome1 test
  • Stromme syndrome2 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sucrase-isomaltase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Supravalvar aortic stenosis2 tests
  • Sweeney-Cox syndrome1 test
  • Syndactyly type 31 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency3 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
  • Tacrolimus response1 test
  • Tall stature-intellectual disability-facial dysmorphism syndrome1 test
  • TARP syndrome1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Testicular anomalies with or without congenital heart disease1 test
  • Tetralogy of Fallot10 tests
  • Thalassemia minor1 test
  • Thoracic aortic aneurysm2 tests
  • Thrombocythemia 14 tests
  • Thrombocythemia 21 test
  • Thrombocythemia 31 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 12 tests
  • Thrombocytopenia 22 tests
  • Thrombocytopenia 31 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 52 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Thrombomodulin-related bleeding disorder2 tests
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect1 test
  • Thrombophilia, X-linked, due to factor 9 defect1 test
  • Thrombotic thrombocytopenic purpura1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Tibial muscular dystrophy5 tests
  • Timothy syndrome2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Transcobalamin II deficiency4 tests
  • Transient bullous dermolysis of the newborn1 test
  • Transposition of the great arteries1 test
  • Transposition of the great arteries, dextro-looped3 tests
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Triosephosphate isomerase deficiency4 tests
  • Triploidy1 test
  • Trisomy 181 test
  • Tropical pancreatitis1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Turner syndrome1 test
  • TWIST1-related craniosynostosis1 test
  • Type 1 diabetes mellitus 202 tests
  • Type 2 diabetes mellitus1 test
  • Type 3 autoimmune lymphoproliferative syndrome1 test
  • Tyrosinemia type I2 tests
  • Ulnar-mammary syndrome1 test
  • Upshaw-Schulman syndrome2 tests
  • Uruguay Faciocardiomusculoskeletal syndrome2 tests
  • Usher syndrome type 15 tests
  • Usher syndrome type 1B2 tests
  • Usher syndrome type 1C4 tests
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F5 tests
  • Usher syndrome type 1G4 tests
  • Usher syndrome type 2A4 tests
  • Usher syndrome type 2C3 tests
  • Usher syndrome type 2D4 tests
  • Usher syndrome type 34 tests
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic2 tests
  • VACTERL association, X-linked, with or without hydrocephalus2 tests
  • VACTERL with hydrocephalus2 tests
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • Vasculitis due to ADA2 deficiency4 tests
  • Velocardiofacial syndrome5 tests
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 12 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 32 tests
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 32 tests
  • Vesicoureteral reflux 82 tests
  • Vici syndrome3 tests
  • Visceral heterotaxy3 tests
  • Visceral myopathy2 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 13 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • Von Hippel-Lindau syndrome2 tests
  • Warfarin response3 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis4 tests
  • WDR1 deficiency2 tests
  • Weill-Marchesani syndrome 12 tests
  • Weill-Marchesani syndrome 2, dominant2 tests
  • WHIM syndrome 21 test
  • Williams syndrome1 test
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome4 tests
  • Wiskott-Aldrich syndrome 24 tests
  • Wolcott-Rallison dysplasia3 tests
  • Wolff-Parkinson-White pattern3 tests
  • X-linked agammaglobulinemia1 test
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked congenital hemolytic anemia1 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
  • X-linked Emery-Dreifuss muscular dystrophy4 tests
  • X-linked erythropoietic protoporphyria2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia4 tests
  • X-linked intellectual disability with marfanoid habitus2 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency3 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency3 tests
  • X-linked mixed hearing loss with perilymphatic gusher3 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked scapuloperoneal muscular dystrophy1 test
  • X-linked severe combined immunodeficiency3 tests
  • X-linked severe congenital neutropenia2 tests
  • X-linked sideroblastic anemia 12 tests
  • X-linked sideroblastic anemia with ataxia4 tests
  • X-linked spondyloepimetaphyseal dysplasia1 test
  • ZAP70-Related Severe Combined Immunodeficiency2 tests
  • Zinc deficiency, transient neonatal1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Prenatal testing
  • Custom Sequence Analysis, comments
  • Carrier testing
  • Identity Testing
  • Insurance billing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing, comments

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 36D0656333, Expiration date: 2025-01-02
  • CAP, Number: 1667801, Expiration date: 2023-04-12

IMPORTANT NOTE: 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. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.