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GTR Home > Laboratories > Laboratory of Human Genetics

Laboratory of Human Genetics

GTR Lab ID: 320061, Last updated:2020-12-10
Annual Review past due read more

Personnel

Conditions and tests

  • Absence seizure1 test
  • Achondroplasia1 test
  • Adrenoleukodystrophy1 test
  • Age related macular degeneration 41 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome1 test
  • Alzheimer disease1 test
  • Alzheimer disease 21 test
  • Amyotrophic lateral sclerosis1 test
  • Androgen resistance syndrome1 test
  • Angelman syndrome1 test
  • Angiokeratoma corporis diffusum1 test
  • Arteriohepatic dysplasia1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive limb-girdle muscular dystrophy1 test
  • Bethlem myopathy 11 test
  • Bloom syndrome1 test
  • Breast cancer, early-onset2 tests
  • Breast cancer, familial male2 tests
  • Breast cancer, susceptibility to2 tests
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cervical C2/C3 vertebral fusion1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital glaucoma1 test
  • Coproporphyria1 test
  • Crigler-Najjar syndrome1 test
  • Cystic fibrosis1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Ehlers-Danlos syndrome1 test
  • Epilepsy, childhood absence, susceptibility to, 11 test
  • Familial adenomatous polyposis 11 test
  • Familial adenomatous polyposis 21 test
  • Familial cancer of breast2 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fragile X syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gaucher disease1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Gilbert syndrome1 test
  • GLB1-Related Disorders1 test
  • Glycogen storage disease, type II1 test
  • Hemochromatosis type 11 test
  • Hereditary breast ovarian cancer syndrome2 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary fructosuria1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
  • Hypercholesterolemia, familial, 11 test
  • Hypochondroplasia1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Kabuki syndrome1 test
  • Li-Fraumeni syndrome1 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lowe syndrome1 test
  • Marfan syndrome2 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Multiple endocrine neoplasia1 test
  • Multiple endocrine neoplasia, type 21 test
  • Muscular dystrophy, limb-girdle, autosomal dominant1 test
  • Nephropathic cystinosis1 test
  • Neurofibromatosis, type 11 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Obesity1 test
  • Phenylketonuria1 test
  • Porphyria1 test
  • Retinoblastoma1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spermatogenic failure, Y-linked, 21 test
  • Sphingomyelin/cholesterol lipidosis1 test
  • Spinal muscular atrophy1 test
  • Thanatophoric dysplasia type 11 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombin defect1 test
  • Thyroid hormone resistance syndrome1 test
  • Tremor, hereditary essential, 11 test
  • Trimethylaminuria1 test
  • Tuberous sclerosis syndrome1 test
  • Variegate porphyria1 test
  • Von Hippel-Lindau syndrome1 test
  • Wilson disease1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Mutation Confirmation
  • Result interpretation
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • EMQN, Number: 0561, Expiration date: 2020-12-31
  • Polish Society of Human Genetics, Number: 000, Expiration date: 2019-12-31

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.