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

GTR Lab ID: 1237, Last updated:2021-09-07

Personnel

Conditions and tests

  • 2,4-Dienoyl-CoA reductase deficiency1 test
  • 3-Methylglutaconic aciduria type 28 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2 tests
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia1 test
  • 46,xx sex reversal 51 test
  • 46,XY sex reversal 91 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Acquired hemoglobin H disease2 tests
  • Acrocallosal syndrome2 tests
  • Acrocephalosyndactyly type I1 test
  • Acromicric dysplasia1 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 family, member 9, deficiency of4 tests
  • Adams-Oliver syndrome 53 tests
  • Adenosine triphosphate, elevated, of erythrocytes2 tests
  • Adenylate kinase deficiency, hemolytic anemia due to4 tests
  • Adult hypophosphatasia1 test
  • Adult polyglucosan body disease1 test
  • ADULT syndrome1 test
  • Afibrinogenemia, congenital1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Age-related macular degeneration 21 test
  • Age-related macular degeneration 31 test
  • Age-related macular degeneration 41 test
  • Agnathia-otocephaly complex1 test
  • Alagille syndrome 15 tests
  • Alagille syndrome 24 tests
  • ALG8-CDG2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome2 tests
  • Alpha-1-antitrypsin deficiency3 tests
  • Alpha-B crystallinopathy3 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
  • Amelia, autosomal recessive1 test
  • Amyloidogenic transthyretin amyloidosis3 tests
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome4 tests
  • Anemia without thromobocytopenia, X-linked1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Anemia, sideroblastic, 12 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Aneurysm of thoracic aorta2 tests
  • Angelman syndrome2 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps2 tests
  • 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
  • Apolipoprotein C2 deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic cardiomyopathy2 tests
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 115 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 124 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 95 tests
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 132 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 23 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 11 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 7 with or without atrioventricular conduction defects3 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 22 tests
  • Atrioventricular septal defect 32 tests
  • Atrioventricular septal defect 42 tests
  • Atrioventricular septal defect 53 tests
  • Atypical hemolytic uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome 14 tests
  • Atypical hemolytic-uremic syndrome 22 tests
  • Atypical hemolytic-uremic syndrome 32 tests
  • Atypical hemolytic-uremic syndrome 42 tests
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 62 tests
  • Auditory neuropathy, autosomal recessive, 11 test
  • Autism spectrum disorder1 test
  • Autoimmune disease, multisystem, infantile-onset, 11 test
  • Autoimmune lymphoproliferative syndrome6 tests
  • Autoimmune lymphoproliferative syndrome 31 test
  • Autoimmune lymphoproliferative syndrome type 2B3 tests
  • Autoimmune lymphoproliferative syndrome type V3 tests
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b3 tests
  • Autoimmune lymphoproliferative syndrome, type 2A3 tests
  • Autoinflammation with infantile enterocolitis2 tests
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant macrothrombocytopenia TUBB1-related1 test
  • Autosomal dominant nonsyndromic deafness 172 tests
  • Autosomal dominant nonsyndromic deafness 224 tests
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 21 test
  • autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Azathioprine response1 test
  • 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 29 tests
  • Bare lymphocyte syndrome type 13 tests
  • Bare lymphocyte syndrome type 2, complementation group A2 tests
  • Bartter syndrome type 31 test
  • Bartter syndrome, type 4b1 test
  • Basal laminar drusen2 tests
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 24 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy4 tests
  • Bent bone dysplasia syndrome1 test
  • Bernard Soulier syndrome3 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Beta thalassemia intermedia1 test
  • Beta thalassemia major1 test
  • Beta thalassemia minor1 test
  • Bifunctional peroxisomal enzyme deficiency2 tests
  • Bilateral right-sidedness sequence1 test
  • Bile acid CoA ligase deficiency and defective amidation1 test
  • Bile acid malabsorption, primary3 tests
  • Bile acid synthesis defect, congenital, 34 tests
  • Bile acid synthesis defect, congenital, 53 tests
  • Bilirubin, serum level of, quantitative trait locus 11 test
  • Blau syndrome1 test
  • Bleeding disorder, platelet-type, 211 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Bloom syndrome4 tests
  • Bone marrow failure syndrome 13 tests
  • Bone marrow failure syndrome 22 tests
  • Bone marrow failure syndrome 34 tests
  • Bone marrow failure syndrome 43 tests
  • Bone marrow failure syndrome 52 tests
  • Boomerang dysplasia1 test
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Branchiootic syndrome 11 test
  • Branchiootic syndrome 34 tests
  • Branchiootorenal Syndrome 14 tests
  • Branchiootorenal syndrome 24 tests
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 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, 21 test
  • Candidiasis, familial, 61 test
  • Capillary malformation-arteriovenous malformation 13 tests
  • Cardiac arrhythmia2 tests
  • Cardiac arrhythmia, ankyrin B-related3 tests
  • Cardiac defects1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 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, 1NN4 tests
  • Cardiomyopathy, dilated, 2b3 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis3 tests
  • Cardiomyopathy, familial hypertrophic 272 tests
  • Cardiomyopathy, familial hypertrophic, 265 tests
  • Carnitine acylcarnitine translocase deficiency4 tests
  • Carnitine palmitoyltransferase 1A deficiency3 tests
  • Carnitine palmitoyltransferase II deficiency2 tests
  • Carnitine palmitoyltransferase II deficiency, infantile3 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal5 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced4 tests
  • Carotid intimal medial thickness 12 tests
  • Carpenter syndrome 22 tests
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • Cataract, autosomal recessive congenital 51 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 17 tests
  • Catel Manzke syndrome1 test
  • Caveolinopathy1 test
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
  • Cerebroretinal microangiopathy with calcifications and cysts 14 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 23 tests
  • CFHR5 deficiency3 tests
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease, type 4k1 test
  • CHARGE association4 tests
  • Childhood hypophosphatasia1 test
  • Cholestanol storage disease3 tests
  • Cholestasis, benign recurrent intrahepatic 13 tests
  • Cholestasis, intrahepatic, of pregnancy 32 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, progressive familial intrahepatic 12 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesteryl ester storage disease1 test
  • Chondrosarcoma1 test
  • Choreoacanthocytosis1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Chromosome 13q trisomy1 test
  • Chronic familial neutropenia1 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic lymphocytic leukemia4 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive2 tests
  • Chronic pancreatitis1 test
  • chronic recurrent pancreatitis1 test
  • Chédiak-Higashi syndrome5 tests
  • Ciliary dyskinesia, primary, 102 tests
  • Ciliary dyskinesia, primary, 112 tests
  • Ciliary dyskinesia, primary, 122 tests
  • Ciliary dyskinesia, primary, 132 tests
  • Ciliary dyskinesia, primary, 142 tests
  • Ciliary dyskinesia, primary, 152 tests
  • Ciliary dyskinesia, primary, 162 tests
  • Ciliary dyskinesia, primary, 172 tests
  • Ciliary dyskinesia, primary, 181 test
  • Ciliary dyskinesia, primary, 192 tests
  • Ciliary dyskinesia, primary, 22 tests
  • Ciliary dyskinesia, primary, 201 test
  • Ciliary dyskinesia, primary, 212 tests
  • Ciliary dyskinesia, primary, 221 test
  • Ciliary dyskinesia, primary, 262 tests
  • Ciliary dyskinesia, primary, 272 tests
  • Ciliary dyskinesia, primary, 282 tests
  • Ciliary dyskinesia, primary, 292 tests
  • Ciliary dyskinesia, primary, 32 tests
  • Ciliary dyskinesia, primary, 302 tests
  • Ciliary dyskinesia, primary, 322 tests
  • Ciliary dyskinesia, primary, 332 tests
  • Ciliary dyskinesia, primary, 342 tests
  • Ciliary dyskinesia, primary, 352 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
  • Ciliary dyskinesia, primary, 52 tests
  • Ciliary dyskinesia, primary, 62 tests
  • Ciliary dyskinesia, primary, 72 tests
  • Ciliary dyskinesia, primary, 92 tests
  • Ciliopathy1 test
  • Citrullinemia type II3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria2 tests
  • Cleft palate, cardiac defects, and mental retardation2 tests
  • Cleidocranial dysostosis1 test
  • COACH syndrome 21 test
  • Cobalamin C disease1 test
  • Coffin-Siris syndrome1 test
  • Cohen syndrome4 tests
  • Combined cellular and humoral immune defects with granulomas4 tests
  • Combined immunodeficiency due to ORAI1 deficiency3 tests
  • Combined immunodeficiency due to STIM1 deficiency5 tests
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation deficiency 102 tests
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 172 tests
  • Combined oxidative phosphorylation deficiency 82 tests
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 101 test
  • Common variable immunodeficiency 21 test
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 71 test
  • Common variable immunodeficiency 8, with autoimmunity3 tests
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency, autosomal recessive2 tests
  • Complement component 5 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement factor B deficiency1 test
  • Complement factor d deficiency3 tests
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Cone-rod dystrophy 31 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 43 tests
  • Congenital chromosomal disease1 test
  • Congenital contractural arachnodactyly2 tests
  • Congenital disorder of glycosylation type 1M2 tests
  • Congenital disorder of glycosylation type 1t2 tests
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia, type I6 tests
  • Congenital dyserythropoietic anemia, type II4 tests
  • Congenital dyserythropoietic anemia, type III3 tests
  • Congenital dyserythropoietic anemia, type IV3 tests
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly1 test
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 42 tests
  • Congenital heart defects, multiple types, 51 test
  • Congenital heart disease2 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
  • Congenital microvillous atrophy2 tests
  • Congenital muscular dystrophy, LMNA-related3 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive1 test
  • Congenital neutropenia2 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Conotruncal anomaly face syndrome2 tests
  • Conotruncal heart malformations4 tests
  • Cornelia de Lange syndrome 11 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
  • Craniosynostosis 11 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
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa, autosomal dominant 13 tests
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal dominant 32 tests
  • Cutis laxa, autosomal recessive IIIA2 tests
  • Cyclical neutropenia3 tests
  • Cystic fibrosis2 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
  • Danon disease6 tests
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 114 tests
  • Deafness, autosomal dominant 233 tests
  • Deafness, autosomal dominant 363 tests
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal recessive 124 tests
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 184 tests
  • Deafness, autosomal recessive 1A5 tests
  • Deafness, autosomal recessive 1b2 tests
  • Deafness, autosomal recessive 24 tests
  • Deafness, autosomal recessive 234 tests
  • Deafness, autosomal recessive 314 tests
  • Deafness, autosomal recessive 373 tests
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct7 tests
  • Deafness, autosomal recessive 63 tests
  • Deafness, autosomal recessive 661 test
  • Deafness, autosomal recessive 73 tests
  • Deafness, autosomal recessive 83 tests
  • Deafness, autosomal recessive 93 tests
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness, digenic, GJB2/GJB61 test
  • Deafness, nonsyndromic sensorineural, mitochondrial1 test
  • Deafness, X-linked 23 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
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
  • Dental anomalies and short stature2 tests
  • Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes mellitus, insulin-dependent, 202 tests
  • 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
  • Diarrhea 4, malabsorptive, congenital2 tests
  • DiGeorge Syndrome1 test
  • DiGeorge syndrome/velocardiofacial syndrome complex 22 tests
  • Dilated cardiomyopathy 1A6 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C4 tests
  • Dilated cardiomyopathy 1CC2 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 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 3B3 tests
  • Dilated cardiomyopathy with left ventricular noncompaction1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Disorder due cytochrome p450 CYP2C19 variant2 tests
  • Disorder due cytochrome p450 CYP2D6 variant4 tests
  • Disorder of bile acid synthesis1 test
  • Distichiasis-lymphedema syndrome1 test
  • 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 recessive 13 tests
  • Dyskeratosis congenita, autosomal dominant 14 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal dominant, 24 tests
  • Dyskeratosis congenita, autosomal dominant, 33 tests
  • Dyskeratosis congenita, autosomal dominant, 42 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive 63 tests
  • Dyskeratosis congenita, autosomal recessive, 34 tests
  • Dyskeratosis congenita, autosomal recessive, 54 tests
  • Dyskeratosis congenita, X-linked4 tests
  • Dyslexia 11 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 92 tests
  • Dystrophic epidermolysis bullosa3 tests
  • Early repolarization associated with ventricular fibrillation1 test
  • EAST syndrome3 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ectopia lentis, isolated, autosomal dominant2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • Eculizumab, poor response to2 tests
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome classic type 21 test
  • Ehlers-Danlos syndrome dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 14 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, cardiac valvular type3 tests
  • Ehlers-Danlos syndrome, classic type4 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 11 test
  • 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 1, X-linked4 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalopathy1 test
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Epidermolysis bullosa16 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia3 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex10 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with muscular dystrophy2 tests
  • Epidermolysis bullosa simplex with pyloric atresia3 tests
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss2 tests
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epidermolysis bullosa, nonspecific, autosomal recessive1 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, idiopathic generalized 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
  • Exudative vitreoretinopathy 41 test
  • Fabry disease4 tests
  • Factor H deficiency2 tests
  • Factor VII deficiency1 test
  • Familial cancer of breast1 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial erythrocytosis1 test
  • Familial hemiplegic migraine type 31 test
  • Familial hemophagocytic lymphohistiocytosis 23 tests
  • Familial hemophagocytic lymphohistiocytosis 33 tests
  • Familial hemophagocytic lymphohistiocytosis 43 tests
  • Familial hypercholesterolemia2 tests
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypertrophic cardiomyopathy 15 tests
  • Familial hypertrophic cardiomyopathy 103 tests
  • Familial hypertrophic cardiomyopathy 114 tests
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 152 tests
  • Familial hypertrophic cardiomyopathy 162 tests
  • Familial hypertrophic cardiomyopathy 173 tests
  • Familial hypertrophic cardiomyopathy 183 tests
  • Familial hypertrophic cardiomyopathy 23 tests
  • Familial hypertrophic cardiomyopathy 202 tests
  • Familial hypertrophic cardiomyopathy 32 tests
  • Familial hypertrophic cardiomyopathy 43 tests
  • Familial hypertrophic cardiomyopathy 63 tests
  • Familial hypertrophic cardiomyopathy 72 tests
  • Familial hypertrophic cardiomyopathy 82 tests
  • Familial hypertrophic cardiomyopathy 95 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial Mediterranean fever1 test
  • Familial mediterranean fever, autosomal dominant1 test
  • Familial partial lipodystrophy 11 test
  • Familial partial lipodystrophy 33 tests
  • Familial platelet disorder with associated myeloid malignancy2 tests
  • Familial restrictive cardiomyopathy2 tests
  • Familial restrictive cardiomyopathy 13 tests
  • Familial restrictive cardiomyopathy 34 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 M1 test
  • 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 S3 tests
  • Fanconi anemia, complementation group T4 tests
  • Fanconi anemia, complementation group U4 tests
  • Fanconi anemia, complementation group V3 tests
  • Fanconi anemia, complementation group W3 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi-Bickel syndrome4 tests
  • Febrile seizures, familial, 3a1 test
  • Feingold syndrome 11 test
  • Fetal and neonatal alloimmune thrombocytopenia1 test
  • Fetal hemoglobin quantitative trait locus 11 test
  • FG syndrome 11 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
  • Fukuyama congenital muscular dystrophy2 tests
  • Gallbladder disease 41 test
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to4 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
  • GLUT1 deficiency syndrome 14 tests
  • GLUT1 deficiency syndrome 22 tests
  • Glutathione peroxidase deficiency4 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to4 tests
  • Gluthathione synthetase deficiency2 tests
  • Glycogen storage disease 0, muscle3 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency3 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency3 tests
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc3 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease of heart, lethal congenital5 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type IXa13 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
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • Granulocytopenia with immunoglobulin abnormality2 tests
  • 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
  • Hay-Wells syndrome of ectodermal dysplasia1 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 hexokinase deficiency4 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency4 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to1 test
  • Hemophagocytic lymphohistiocytosis, familial, 53 tests
  • Hemorrhage, intracerebral, susceptibility to1 test
  • 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 hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary melanoma2 tests
  • Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
  • Hereditary non-spherocytic hemolytic anemia2 tests
  • Hereditary pancreatitis6 tests
  • Hereditary pyropoikilocytosis2 tests
  • Hereditary spastic paraplegia 5A2 tests
  • Hereditary spastic paraplegia 9A2 tests
  • Hereditary stomatocytosis2 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 11 test
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxia3 tests
  • Heterotaxy, visceral, 1, X-linked2 tests
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 6, autosomal2 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Histiocytic medullary reticulosis7 tests
  • HNSHA due to aldolase A deficiency6 tests
  • Holt-Oram syndrome3 tests
  • HSD10 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 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 14 tests
  • Hypercalciuric hypercalcemia1 test
  • Hypercholanemia, familial8 tests
  • Hypercholanemia, familial, 21 test
  • Hypercholesterolaemia1 test
  • Hypercoagulability1 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I1 test
  • Hyperlysinemia1 test
  • Hyperphenylalaninemia, mild, non-bh4-deficient1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy2 tests
  • Hypertrophic cardiomyopathy 253 tests
  • Hypocalcemia, autosomal dominant 11 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis 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
  • Idiopathic nephrotic syndrome1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Immunodeficiency 142 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 18, severe combined immunodeficiency variant2 tests
  • Immunodeficiency 191 test
  • Immunodeficiency 221 test
  • Immunodeficiency 231 test
  • Immunodeficiency 242 tests
  • Immunodeficiency 26 with or without neurologic abnormalities3 tests
  • Immunodeficiency 27A5 tests
  • Immunodeficiency 31C1 test
  • Immunodeficiency 351 test
  • Immunodeficiency 38 with basal ganglia calcification1 test
  • Immunodeficiency 492 tests
  • Immunodeficiency 502 tests
  • Immunodeficiency 522 tests
  • Immunodeficiency 641 test
  • Immunodeficiency 662 tests
  • Immunodeficiency 671 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta2 tests
  • Immunodeficiency due to defect in mapbp-interacting protein4 tests
  • Immunodeficiency due to ficolin 3 deficiency1 test
  • Immunodeficiency, common variable, 131 test
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia4 tests
  • Immunoglobulin A deficiency 21 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
  • Infantile cortical hyperostosis2 tests
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Infantile liver failure1 test
  • Infantile nephronophthisis3 tests
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
  • Inflammatory bowel disease 25, autosomal recessive1 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1 test
  • Intellectual disability1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital3 tests
  • Intrauterine growth restriction1 test
  • Invasive pneumococcal disease, recurrent isolated, 11 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 41 test
  • Joubert syndrome 91 test
  • Junctional epidermolysis bullosa3 tests
  • Junctional epidermolysis bullosa gravis of Herlitz6 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 II2 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
  • 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 65 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 tight skin contracture syndrome2 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency, type III1 test
  • Leukoencephalopathy with dystonia and motor neuropathy2 tests
  • Leukoencephalopathy, progressive, with ovarian failure1 test
  • Levy-Hollister syndrome1 test
  • Lhermitte-Duclos disease2 tests
  • Li-Fraumeni syndrome 11 test
  • Lig4 syndrome4 tests
  • Limb-girdle muscular dystrophy, type 2J5 tests
  • Limb-girdle muscular dystrophy, type 2Q2 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Limb-mammary syndrome1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Localized epidermolysis bullosa simplex2 tests
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 51 test
  • 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
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Lucey-Driscoll syndrome1 test
  • Lung disease, immunodeficiency, and chromosome breakage syndrome3 tests
  • Lymphedema, primary, with myelodysplasia2 tests
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 1, X-linked3 tests
  • Lymphoproliferative syndrome 23 tests
  • Lymphoproliferative syndrome 2, X-linked3 tests
  • Lysinuric protein intolerance3 tests
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly with multiple epiphyseal dysplasia and distinctive facies2 tests
  • Macrocephaly/autism syndrome2 tests
  • Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Majeed syndrome4 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Marfan lipodystrophy syndrome2 tests
  • Marfan syndrome3 tests
  • Marfan Syndrome type 21 test
  • MASS syndrome2 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 82 tests
  • Maturity-onset diabetes of the young, type 141 test
  • Maturity-onset diabetes of the young, type 33 tests
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome4 tests
  • Meckel syndrome type 13 tests
  • Meckel syndrome type 62 tests
  • Meckel syndrome type 73 tests
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
  • Meester-loeys syndrome2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Melanoma3 tests
  • Meningioma, familial1 test
  • Menke-Hennekam syndrome 11 test
  • Mental retardation and distinctive facial features with or without cardiac defects1 test
  • Mental retardation, autosomal recessive 51 test
  • Mental retardation, X-linked, syndromic 102 tests
  • Mental retardation, X-linked, syndromic 131 test
  • Mercaptopurine response1 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
  • 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 21 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 3, hepatocerebral3 tests
  • Mitochondrial trifunctional protein deficiency6 tests
  • MPI-CDG2 tests
  • MTHFR deficiency, thermolabile type2 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 exostoses type 21 test
  • Multiple gastrointestinal atresias3 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
  • Mycobacterium tuberculosis, susceptibility to1 test
  • Myd88 deficiency1 test
  • Myelodysplastic syndrome3 tests
  • Myelofibrosis3 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • Myhre syndrome2 tests
  • Myoclonic dystonia 111 test
  • Myofibrillar myopathy 16 tests
  • Myofibrillar myopathy, BAG3-related3 tests
  • Myofibrillar myopathy, filamin C-related5 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy with extrapyramidal signs1 test
  • Myopathy with postural muscle atrophy, X-linked2 tests
  • Myopathy, centronuclear, 51 test
  • Myopathy, distal, 11 test
  • Myopathy, distal, 45 tests
  • Myopathy, early-onset, with fatal cardiomyopathy5 tests
  • 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
  • Navajo neurohepatopathy2 tests
  • Naxos disease5 tests
  • Nemaline myopathy 11, autosomal recessive1 test
  • Nemaline myopathy 31 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency3 tests
  • Neonatal severe hyperparathyroidism1 test
  • Nephroblastoma1 test
  • Nephronophthisis1 test
  • Nephronophthisis 12 tests
  • Nephronophthisis 162 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 32 tests
  • Nephronophthisis 41 test
  • Nephropathic cystinosis1 test
  • Nephropathy with pretibial epidermolysis bullosa and deafness3 tests
  • Nephrotic syndrome, type 72 tests
  • 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
  • Neuropathy, hereditary motor and sensory, Russe type2 tests
  • Neutropenia, severe congenital 1, autosomal dominant3 tests
  • Neutropenia, severe congenital, 7, autosomal recessive2 tests
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome5 tests
  • Niemann-Pick disease type C11 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C1, juvenile form1 test
  • Niemann-Pick disease, type C22 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 syndrome-like disorder with or without juvenile myelomonocytic leukemia4 tests
  • Noonan-like syndrome1 test
  • Obesity2 tests
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome2 tests
  • Oculootoradial syndrome1 test
  • Odontohypophosphatasia1 test
  • Ohdo 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 xiv1 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
  • Ovalocytosis, southeast Asian1 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
  • Pancreatic agenesis 11 test
  • Pancreatic agenesis and congenital heart disease1 test
  • Papillary thyroid carcinoma1 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Paroxysmal familial ventricular fibrillation 11 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Peeling skin syndrome 15 tests
  • Peeling skin syndrome 22 tests
  • Pendred syndrome4 tests
  • Periventricular nodular heterotopia 12 tests
  • Peroxisome biogenesis disorder 10A2 tests
  • Peroxisome biogenesis disorder 10b1 test
  • Peroxisome biogenesis disorder 11A2 tests
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A2 tests
  • Peroxisome biogenesis disorder 13A2 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 3A1 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 6A2 tests
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A1 test
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A2 tests
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorders1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
  • Perrault syndrome 11 test
  • Persistent pulmonary hypertension of the newborn1 test
  • Pfeiffer syndrome1 test
  • Pheochromocytoma1 test
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
  • Phosphoglycerate kinase 1 deficiency5 tests
  • Pigmentary pallidal degeneration1 test
  • Pitt-Hopkins-like syndrome 11 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 glycoprotein IV deficiency1 test
  • Platelet-type bleeding disorder 13, susceptibility to1 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
  • Polyarteritis nodosa, childhoood-onset4 tests
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 31 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
  • Polycythemia vera3 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body myopathy 21 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Postaxial polydactyly type A11 test
  • Postmenopausal osteoporosis2 tests
  • Potassium-aggravated myotonia1 test
  • Prader-Willi syndrome2 tests
  • Preaxial polydactyly 41 test
  • Preeclampsia1 test
  • Prekallikrein deficiency1 test
  • Pretibial epidermolysis bullosa1 test
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary dilated cardiomyopathy9 tests
  • Primary familial hypertrophic cardiomyopathy6 tests
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III1 test
  • Primary immunodeficiency1 test
  • Primary pulmonary hypertension 12 tests
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 31 test
  • Primary pulmonary hypertension 41 test
  • Primary sclerosing cholangitis2 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia2 tests
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis2 tests
  • Progressive familial intrahepatic cholestasis 24 tests
  • Progressive familial intrahepatic cholestasis 34 tests
  • Progressive familial intrahepatic cholestasis 44 tests
  • 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
  • Protoporphyria, erythropoietic, X-linked2 tests
  • Pseudo von Willebrand disease1 test
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency3 tests
  • Pulmonary arterial hypertension1 test
  • Pulmonary emphysema co-occurrent with fibrosis of lung1 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 venoocclusive disease 1, autosomal dominant2 tests
  • Pulmonary venoocclusive disease 2, autosomal recessive2 tests
  • Purine-nucleoside phosphorylase deficiency3 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate kinase deficiency of red cells4 tests
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
  • RAS-associated autoimmune leukoproliferative disorder8 tests
  • RASGRP1 deficiency1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Reduced generation of multiple motile cilia (RGMC)1 test
  • Renal carnitine transport defect4 tests
  • Renal cell carcinoma, nonpapillary2 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal tubular acidosis, distal, with hemolytic anemia1 test
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome 12 tests
  • Reticular dysgenesis5 tests
  • Retinal arteries, tortuosity of1 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
  • Robinow-Sorauf syndrome1 test
  • Rubinstein-Taybi syndrome 11 test
  • Saethre-Chotzen syndrome2 tests
  • Scapuloperoneal myopathy, X-linked dominant1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schuurs-hoeijmakers syndrome1 test
  • Schwannomatosis 12 tests
  • Sclerosing cholangitis, neonatal1 test
  • SCOTT SYNDROME1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 13 tests
  • Seizures, cortical blindness, and microcephaly syndrome1 test
  • 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 ADA deficiency3 tests
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive11 tests
  • Severe congenital neutropenia2 tests
  • Severe congenital neutropenia 2, autosomal dominant4 tests
  • Severe congenital neutropenia 4, autosomal recessive4 tests
  • Severe congenital neutropenia 5, autosomal recessive4 tests
  • Severe congenital neutropenia 6, autosomal recessive4 tests
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • short QT syndrome1 test
  • Short QT syndrome 11 test
  • Short QT syndrome 23 tests
  • Short QT syndrome 31 test
  • Short stature, idiopathic, X-linked1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Shprintzen syndrome5 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 15 tests
  • Shwachman-Diamond syndrome 22 tests
  • Sick sinus syndrome 2, autosomal dominant2 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Simpson-Golabi-Behmel syndrome, type 22 tests
  • Sitosterolemia7 tests
  • Situs ambiguus2 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
  • Spastic paraplegia 9b, autosomal recessive2 tests
  • Specific granule deficiency 22 tests
  • Spermatogenic failure 182 tests
  • Spermatogenic failure 272 tests
  • Spermatogenic failure 461 test
  • Spherocytosis type 14 tests
  • Spherocytosis type 24 tests
  • Spherocytosis type 34 tests
  • Spherocytosis type 44 tests
  • Spherocytosis type 54 tests
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia type 271 test
  • Split-hand/foot malformation 41 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Stargardt disease 11 test
  • Stickler syndrome type 12 tests
  • Stiff skin syndrome1 test
  • Sting-associated vasculopathy, infantile-onset1 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-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
  • T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations5 tests
  • Tacrolimus response1 test
  • Takenouchi-Kosaki syndrome1 test
  • TARP syndrome1 test
  • Tatton-Brown-rahman syndrome1 test
  • 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
  • Thioguanine response1 test
  • Thrombocythemia 14 tests
  • Thrombocythemia 31 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 12 tests
  • Thrombocytopenia 22 tests
  • Thrombocytopenia 31 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 52 tests
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Thrombocytosis, benign familial microcytic1 test
  • Thrombophilia due to factor V Leiden2 tests
  • 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 due to thrombomodulin defect2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia, X-linked, due to factor IX defect1 test
  • Thrombotic thrombocytopenic purpura1 test
  • Thyrotoxic periodic paralysis 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
  • Transcolabamin II deficiency4 tests
  • Transient bullous dermolysis of the newborn1 test
  • Transposition of the great arteries1 test
  • Transposition of the great arteries, dextro-looped 13 tests
  • Transposition of the great arteries, dextro-looped 31 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Triosephosphate isomerase deficiency4 tests
  • Triploidy1 test
  • Tropical calcific pancreatitis1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Turner syndrome1 test
  • Type 2 diabetes mellitus1 test
  • Tyrosinemia type I2 tests
  • Ulnar-mammary syndrome1 test
  • Upshaw-Schulman syndrome2 tests
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to4 tests
  • Uruguay faciocardiomusculoskeletal syndrome2 tests
  • Usher syndrome type 15 tests
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F5 tests
  • Usher syndrome type 2c, GPR98/PDZD digenic2 tests
  • Usher syndrome, type 1B2 tests
  • Usher syndrome, type 1C4 tests
  • Usher syndrome, type 1G4 tests
  • Usher syndrome, type 2A4 tests
  • Usher syndrome, type 2C3 tests
  • Usher syndrome, type 2D4 tests
  • Usher Syndrome, Type III4 tests
  • VACTERL association with hydrocephalus2 tests
  • VACTERL association, X-linked, with or without hydrocephalus2 tests
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • Ventricular septal defect 12 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 32 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 32 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 41 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness4 tests
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 32 tests
  • Vesicoureteral reflux 82 tests
  • Vici syndrome3 tests
  • Visceral heterotaxy 5, autosomal2 tests
  • Visceral myopathy2 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 13 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 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 22 tests
  • WHIM SYNDROME 21 test
  • Williams syndrome1 test
  • Williams-Beuren region duplication syndrome1 test
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation 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 ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked intellectual disability-hypotonic face syndrome2 tests
  • X-linked mental retardation with marfanoid habitus syndrome2 tests
  • X-linked severe combined immunodeficiency3 tests
  • X-linked severe congenital neutropenia2 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: 2023-01-02
  • CAP, Number: 1667801, Expiration date: 2021-04-12

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.

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