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GTR Home > Laboratories > Clinical Genomics Unit

Clinical Genomics Unit

GTR Lab ID: 320506, Last updated:2023-12-01


Conditions and tests

  • Alport syndrome1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal recessive Alport syndrome1 test
  • Capillary malformation-arteriovenous malformation 11 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Costello syndrome2 tests
  • Familial meningioma1 test
  • Fibromatosis, gingival, 12 tests
  • Juvenile myelomonocytic leukemia2 tests
  • Legius syndrome3 tests
  • Neurofibromatosis, type 13 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome1 test
  • Noonan syndrome2 tests
  • Noonan syndrome with multiple lentigines2 tests
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Schwannomatosis 12 tests
  • Schwannomatosis 21 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tuberous sclerosis syndrome1 test
  • Von Hippel-Lindau syndrome1 test
  • X-linked Alport syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis

Participation in external programs

Standardization programs

  • Mutation-specific Databases

Data exchange Programs

  • Mutation-specific Databases

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.