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GTR Home > Laboratories > Institute of Human Genetics

Institute of Human Genetics

GTR Lab ID: 243629, Last updated:2023-08-03

Personnel

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • Achondroplasia1 test
  • Acquired partial lipodystrophy1 test
  • Actin accumulation myopathy1 test
  • Adams-Oliver syndrome1 test
  • Aicardi Goutieres syndrome1 test
  • AIP-Related Familial Isolated Pituitary Adenomas1 test
  • AKT2-related familial partial lipodystrophy1 test
  • Aldosterone-producing adrenal cortex adenoma1 test
  • Alport syndrome2 tests
  • Aminoglycoside-induced deafness1 test
  • Amyloid Cardiomyopathy, Transthyretin-related1 test
  • Amyotrophic lateral sclerosis2 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Aniridia 11 test
  • Antenatal Bartter syndrome1 test
  • Arthrogryposis, distal, type 1A1 test
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Atypical hemolytic-uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Atypical Rett syndrome1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant hypocalcemia1 test
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant keratitis1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant medullary cystic kidney disease with or without hyperuricemia2 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy1 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive distal spinal muscular atrophy 11 test
  • Autosomal recessive limb-girdle muscular dystrophy2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive primary microcephaly2 tests
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 101 test
  • Bartter disease type 11 test
  • Bartter disease type 21 test
  • Bartter disease type 31 test
  • Bartter disease type 4A1 test
  • Bartter disease type 4B1 test
  • Bartter disease type 51 test
  • Bartter syndrome2 tests
  • Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
  • Bartter syndrome with hypocalcemia1 test
  • Bartter syndrome, type 3, with hypocalciuria1 test
  • Becker muscular dystrophy1 test
  • Benign familial hematuria1 test
  • Benign familial neonatal-infantile seizures 11 test
  • Berardinelli-Seip congenital lipodystrophy1 test
  • Bethlem myopathy 1A2 tests
  • Birt-Hogg-Dube syndrome2 tests
  • Bone mineral density quantitative trait locus 181 test
  • Brittle cornea syndrome 11 test
  • Bruck syndrome2 tests
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiomyopathy1 test
  • Charcot-Marie-Tooth disease1 test
  • CHRNA1-Related Congenital Myasthenic Syndrome1 test
  • CIDEC-related familial partial lipodystrophy1 test
  • Classic homocystinuria1 test
  • Cobalamin C disease1 test
  • Coenzyme Q10 deficiency, primary, 12 tests
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coffin Siris/Intellectual Disability1 test
  • Coffin-Siris syndrome2 tests
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 51 test
  • Coffin-Siris syndrome 71 test
  • Cole-Carpenter syndrome1 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 21 test
  • Collagen 6-related myopathy1 test
  • Collagen IV-related nephropathies1 test
  • Coloboma of optic nerve1 test
  • Combined molybdoflavoprotein enzyme deficiency1 test
  • Combined oxidative phosphorylation defect type 111 test
  • Complex cortical dysplasia with other brain malformations1 test
  • Congenital absence of salivary gland1 test
  • Congenital anomaly of kidney and urinary tract1 test
  • Congenital disorder of glycosylation1 test
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital intestinal transport defect1 test
  • Congenital muscular dystrophy2 tests
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital myasthenic syndrome2 tests
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 51 test
  • Congenital myopathy1 test
  • Congenital myopathy 10b, mild variant1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
  • Cornelia de Lange syndrome 11 test
  • Craniolenticulosutural dysplasia1 test
  • Craniosynostosis 41 test
  • Craniosynostosis and dental anomalies1 test
  • Cystic fibrosis2 tests
  • Cystinosis1 test
  • Cystinosis, atypical nephropathic1 test
  • Cystinuria1 test
  • Cystinuria type A1 test
  • Cystinuria type B1 test
  • Cystinuria, type a/b1 test
  • De Lange syndrome3 tests
  • Dent disease type 11 test
  • Dentinogenesis imperfecta1 test
  • Diabetes insipidus, neurohypophyseal, X-linked1 test
  • Distal arthrogryposis2 tests
  • Distal arthrogryposis type 2B11 test
  • Distal myopathy1 test
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy, Tateyama type1 test
  • Distal renal tubular acidosis1 test
  • DNA ligase IV deficiency1 test
  • Duane retraction syndrome1 test
  • Duane-radial ray syndrome1 test
  • Duchenne muscular dystrophy1 test
  • Early infantile epileptic encephalopathy with suppression bursts2 tests
  • EAST syndrome1 test
  • Ehlers-Danlos syndrome2 tests
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Ehlers-Danlos syndrome, type 4 variant1 test
  • Eichsfeld type congenital muscular dystrophy1 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial temporal lobe, 11 test
  • Facial nerve disorder1 test
  • Familial amyloid neuropathy1 test
  • Familial aplasia of the vermis1 test
  • Familial hyperaldosteronism2 tests
  • Familial hyperaldosteronism type II1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypocalciuric hypercalcemia1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial idiopathic steroid-resistant nephrotic syndrome2 tests
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial medullary thyroid carcinoma1 test
  • Familial partial epilepsy1 test
  • Familial partial lipodystrophy1 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
  • Familial thoracic aortic aneurysm and aortic dissection2 tests
  • Fanconi anemia1 test
  • Fetal akinesia deformation sequence 12 tests
  • Finnish congenital nephrotic syndrome1 test
  • Focal segmental glomerulosclerosis2 tests
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia 11 test
  • Freeman-Sheldon syndrome1 test
  • Fumarase deficiency1 test
  • Galloway-Mowat syndrome2 tests
  • Galloway-Mowat syndrome 11 test
  • Galloway-Mowat syndrome 31 test
  • Generalized epilepsy with febrile seizures plus1 test
  • Genetic glomerular disease1 test
  • Genetic hypertension1 test
  • Genetic interstitial lung disease1 test
  • Genetic neuromuscular disease1 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Gnathodiaphyseal dysplasia1 test
  • Gordon syndrome1 test
  • Hecht syndrome1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
  • Hereditary amyloidosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary lipodystrophy1 test
  • Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
  • Hereditary pancreatitis1 test
  • Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
  • Hereditary pheochromocytoma-paraganglioma2 tests
  • Hereditary spastic paraplegia1 test
  • High bone mass osteogenesis imperfecta1 test
  • Homocystinuria, cblD type, variant 11 test
  • Horizontal gaze palsy with progressive scoliosis1 test
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypertensive disorder1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypocalcemia, autosomal dominant, with bartter syndrome1 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypophosphatasia1 test
  • Hypophosphatemic rickets1 test
  • Idiopathic juvenile osteoporosis2 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
  • Infantile nephronophthisis1 test
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
  • Infantile-onset X-linked spinal muscular atrophy1 test
  • Inherited renal tubular disease1 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 141 test
  • Intellectual disability, autosomal dominant 151 test
  • Intellectual disability, autosomal dominant 161 test
  • Isolated optic nerve hypoplasia1 test
  • Jeune thoracic dystrophy1 test
  • Juvenile amyotrophic lateral sclerosis1 test
  • Juvenile nephropathic cystinosis1 test
  • Juvenile primary lateral sclerosis1 test
  • Kabuki syndrome1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Karyomegalic interstitial nephritis1 test
  • Keppen-Lubinsky syndrome1 test
  • LAMB2-related infantile-onset nephrotic syndrome1 test
  • Leiomyoma of vulva and esophagus1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal multiple pterygium syndrome1 test
  • Levy-Hollister syndrome1 test
  • Liddle syndrome 11 test
  • Limb-girdle muscular dystrophy3 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • LIPE-related familial partial lipodystrophy1 test
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 41 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Malignant migrating partial seizures of infancy1 test
  • Mandibular hypoplasia-deafness-progeroid syndrome1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Marfan syndrome2 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Meacham syndrome1 test
  • Meckel-Gruber syndrome1 test
  • MEGF10-related myopathy1 test
  • Methylmalonic acidemia with homocystinuria cblC2 tests
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Microangiopathic hemolytic anemia1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
  • Mosaic variegated aneuploidy syndrome1 test
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 31 test
  • Motor neuron disease1 test
  • Mucopolysaccharidosis1 test
  • Muenke syndrome1 test
  • Multiple endocrine neoplasia1 test
  • Multiple endocrine neoplasia type 2A1 test
  • Multiple endocrine neoplasia type 2B1 test
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • Muscular dystrophy2 tests
  • Muscular dystrophy, limb-girdle, autosomal dominant1 test
  • Muscular dystrophy-dystroglycanopathy2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
  • Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 51 test
  • MYH9-related disorder1 test
  • Myoclonic-astatic epilepsy1 test
  • Myopathy, myosin storage, autosomal recessive1 test
  • Myosin storage myopathy1 test
  • Myotonic syndrome1 test
  • Nail-patella syndrome1 test
  • Neonatal Marfan syndrome1 test
  • Nephroblastoma1 test
  • Nephrocalcinosis1 test
  • Nephrogenic diabetes insipidus2 tests
  • Nephrolithiasis1 test
  • Nephronophthisis2 tests
  • Nephronophthisis 11 test
  • Nephronophthisis 31 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome1 test
  • Nephrotic syndrome, type 21 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 92 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Nicolaides-Baraitser syndrome2 tests
  • Nijmegen breakage syndrome-like disorder1 test
  • Nonpapillary renal cell carcinoma1 test
  • Noonan syndrome2 tests
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Ocular cystinosis1 test
  • Oromandibular-limb hypogenesis spectrum1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta3 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, perinatal lethal1 test
  • Osteoporosis with pseudoglioma2 tests
  • Papillary renal cell carcinoma type 11 test
  • Paraganglioma1 test
  • Paragangliomas 11 test
  • Paragangliomas 21 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Pendred syndrome1 test
  • Perlman syndrome1 test
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Pfeiffer syndrome2 tests
  • Pheochromocytoma2 tests
  • Pierson syndrome2 tests
  • Pleuropulmonary blastoma1 test
  • PLIN1-related familial partial lipodystrophy1 test
  • POLG-related disorder1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontoneocerebellar hypoplasia1 test
  • Porphobilinogen synthase deficiency1 test
  • Postmenopausal osteoporosis1 test
  • PPARG-related familial partial lipodystrophy2 tests
  • Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
  • Primary ciliary dyskinesia1 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary hyperoxaluria4 tests
  • Primary hyperoxaluria type 31 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive sclerosing poliodystrophy1 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Pseudohypoaldosteronism1 test
  • Pseudohypoaldosteronism type 11 test
  • Pseudohypoaldosteronism type 2A1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pulmonary hypertension, primary, 11 test
  • Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis1 test
  • Rare genetic epilepsy1 test
  • Rare genetic renal disease1 test
  • Renal coloboma syndrome4 tests
  • Renal cysts and diabetes syndrome5 tests
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal neoplasm1 test
  • Renal tubular dysgenesis2 tests
  • Rett syndrome1 test
  • Rippling muscle disease 21 test
  • Saethre-Chotzen syndrome2 tests
  • Schaaf-Yang syndrome1 test
  • Schimke immuno-osseous dysplasia2 tests
  • Seckel syndrome2 tests
  • Seckel syndrome 11 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 71 test
  • Seckel syndrome 81 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe short stature1 test
  • Short rib-polydactyly syndrome1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • SHORT syndrome1 test
  • Spinal muscular atrophy2 tests
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Syndromic X-linked intellectual disability Najm type1 test
  • TARDBP-related frontotemporal dementia1 test
  • Thanatophoric dysplasia type 11 test
  • Thrombotic thrombocytopenic purpura1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • TWIST1-related craniosynostosis1 test
  • Ullrich congenital muscular dystrophy1 test
  • Ullrich congenital muscular dystrophy 1A2 tests
  • Undetermined early-onset epileptic encephalopathy1 test
  • Upshaw-Schulman syndrome1 test
  • Van Maldergem syndrome1 test
  • Ventriculomegaly-cystic kidney disease1 test
  • Vitamin B12-responsive methylmalonic acidemia, type cblDv21 test
  • Von Hippel-Lindau syndrome3 tests
  • Werdnig-Hoffmann disease1 test
  • Wilms tumor 11 test
  • WT1-related disorder1 test
  • X-linked Alport syndrome1 test
  • X-linked diffuse leiomyomatosis-Alport syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling

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.