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GTR Home > Laboratories > Center for Human Genetics

Center for Human Genetics

GTR Lab ID: 320311, Last updated:2023-02-22
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Personnel

Conditions and tests

  • ACTH-independent macronodular adrenal hyperplasia 22 tests
  • AIP-Related Familial Isolated Pituitary Adenomas1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • alpha Thalassemia1 test
  • Angelman syndrome1 test
  • Arteriovenous malformation1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Autosomal dominant polycystic kidney disease1 test
  • Azoospermia1 test
  • Beckwith-Wiedemann syndrome1 test
  • beta Thalassemia1 test
  • Bile acid malabsorption, primary1 test
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation syndrome1 test
  • Carnitine palmitoyltransferase I deficiency , muscle1 test
  • Cerebral arteriovenous malformation1 test
  • Cerebral cavernous malformation1 test
  • Cholestanol storage disease1 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Cholesteryl ester storage disease1 test
  • Citrullinemia type II1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Cowden syndrome1 test
  • Crigler-Najjar syndrome type 11 test
  • Cystic fibrosis2 tests
  • Deficiency of transaldolase1 test
  • Di-George syndrome1 test
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension1 test
  • Dubin-Johnson syndrome1 test
  • Familial adenomatous polyposis 11 test
  • Familial colorectal cancer1 test
  • Familial hypercholesterolemia1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial melanoma1 test
  • Familial multiple trichoepitheliomata1 test
  • Familial prostate carcinoma2 tests
  • Fanconi renotubular syndrome 11 test
  • Fragile X syndrome1 test
  • Gastrointestinal stromal tumor1 test
  • Glanzmann thrombasthenia1 test
  • Glomuvenous malformation1 test
  • Glycogen storage disease IV, classic hepatic1 test
  • Gorlin syndrome1 test
  • GRACILE syndrome1 test
  • Hemochromatosis type 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hereditary angioneurotic edema1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary lymphedema type I1 test
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis1 test
  • Huntington disease1 test
  • Hyperbilirubinemia - conjugated - type III1 test
  • Hypercholanemia, familial1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Inborn disorder of bile acid synthesis1 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile liver failure1 test
  • Infertility due to oligospermia1 test
  • Inherited renal cancer-predisposing syndrome1 test
  • Isolated neonatal sclerosing cholangitis1 test
  • Kabuki syndrome1 test
  • Kaposiform hemangioendothelioma1 test
  • Li-Fraumeni syndrome1 test
  • Lymphatic malformation 101 test
  • Lymphatic malformation 31 test
  • Lymphatic malformation 41 test
  • Lymphatic malformation 61 test
  • Lymphatic malformation 71 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Macrocephaly-autism syndrome1 test
  • Maffucci syndrome1 test
  • Meckel-Gruber syndrome1 test
  • Medulloblastoma1 test
  • Melanoma1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Mitochondrial DNA depletion syndrome1 test
  • Mucopolysaccharidosis type 71 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia1 test
  • Multiple fibrofolliculomas1 test
  • NAFLD11 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Nephronophthisis1 test
  • NEUROBLASTOMA, SUSCEPTIBILITY TO1 test
  • Neurofibromatosis, type 11 test
  • Niemann-Pick disease, type C1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Osteofibrous dysplasia1 test
  • Pancreatic cancer, adult1 test
  • Paraganglioma1 test
  • Peutz-Jeghers syndrome1 test
  • Pheochromocytoma1 test
  • PIK3CA related overgrowth syndrome1 test
  • Platelet-type bleeding disorder 161 test
  • Portal hypertension, noncirrhotic1 test
  • Prader-Willi syndrome1 test
  • Primary pigmented nodular adrenocortical disease1 test
  • Progressive familial intrahepatic cholestasis type 11 test
  • Proteus syndrome1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pyogenic granuloma1 test
  • Rare genetic venous malformation1 test
  • Retinoblastoma1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Sialidosis1 test
  • Silver-Russell syndrome 11 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spinal muscular atrophy1 test
  • Spindle cell hemangioma1 test
  • Sucrase-isomaltase deficiency1 test
  • Tall stature-intellectual disability-facial dysmorphism syndrome1 test
  • Tuberous sclerosis syndrome1 test
  • Tufted angioma of skin1 test
  • Van der Woude syndrome1 test
  • Verrucous venous malformation1 test
  • Von Hippel-Lindau syndrome1 test
  • Wilson disease1 test

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • EMQN, Number: 2012

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.