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GTR Home > Laboratories > Center for Human Genetics Laboratory

Center for Human Genetics Laboratory

GTR Lab ID: 1236, Last updated:2021-10-22
Annual Review past due read more

Personnel

Conditions and tests

  • 46,XX testicular disorder of sex development1 test
  • 46,XY sex reversal 11 test
  • 5p partial monosomy syndrome1 test
  • Angelman syndrome1 test
  • Cystic fibrosis1 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Fatal familial insomnia1 test
  • Fragile X syndrome1 test
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Hemochromatosis type 11 test
  • Hereditary thrombophilia1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Huntington disease-like 11 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Inherited prion disease1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
  • Paternal uniparental disomy of chromosome 141 test
  • Prader-Willi syndrome1 test
  • Retinoblastoma1 test
  • Silver-Russell syndrome 11 test
  • Smith-Magenis syndrome1 test
  • Spermatogenic failure, Y-linked, 21 test
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to thrombin defect2 tests
  • Velocardiofacial syndrome1 test
  • Williams syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 36D0656024, Expiration date: 2023-08-24
  • CAP, Number: 2540401, Expiration date: 2023-04-16

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.