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GTR Home > Laboratories > Department of Clinical Genetics

Department of Clinical Genetics

GTR Lab ID: 1147, Last updated:2022-01-21
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Personnel

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
  • Aniridia 12 tests
  • Anophthalmia-microphthalmia syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment anomalies with or without cataract1 test
  • Anterior segment dysgenesis 12 tests
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Axenfeld-Rieger syndrome1 test
  • Axenfeld-Rieger syndrome type 13 tests
  • Axenfeld-Rieger syndrome type 33 tests
  • Beckwith-Wiedemann syndrome1 test
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Branchiooculofacial syndrome1 test
  • Cataract 231 test
  • Cornea plana 21 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Dihydropteridine reductase deficiency1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Focal dermal hypoplasia2 tests
  • Focal segmental glomerulosclerosis 71 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 3A1 test
  • GTP cyclohydrolase I deficiency1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Leber congenital amaurosis 21 test
  • Linear skin defects with multiple congenital anomalies 11 test
  • Menkes kinky-hair syndrome1 test
  • Nance-Horan syndrome1 test
  • Oculocutaneous albinism1 test
  • Oculocutaneous albinism type 12 tests
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 42 tests
  • Oculocutaneous albinism type 51 test
  • Oculocutaneous albinism type 61 test
  • Oculocutaneous albinism type 71 test
  • Oculotrichoanal syndrome1 test
  • Optic atrophy1 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Pallister-Hall syndrome1 test
  • Peters plus syndrome2 tests
  • Phenylketonuria1 test
  • Pierson syndrome1 test
  • Primary Open Angle Glaucoma (Adult Onset)1 test
  • Russell-Silver syndrome1 test
  • Silver-Russell syndrome 12 tests
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Syndromic microphthalmia1 test
  • Syndromic microphthalmia type 51 test
  • Torsion dystonia 61 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • West syndrome1 test
  • Wilson disease1 test
  • X-linked lissencephaly with abnormal genitalia1 test

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • DANAK, Number: 1012, Expiration date: 2023-08-31

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.