GTR Home > Laboratories > Center for Human Genetics Laboratory

Center for Human Genetics Laboratory

GTR Lab ID: 1236
Last updated: 2014-09-09

General information

  • Center for Human Genetics Laboratory
  • University Hospitals - University Hospitals Laboratory Service Foundation
  • 10524 Euclid Ave, 6th Floor
  • Cleveland, Ohio, United States 44106
  • Phone: 216-983-1134
    Fax: 216-983-1144
  • Website:
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Conditions and tests

  • 46,XX testicular disorder of sex development1 test
  • 46,XY sex reversal, type 11 test
  • 5p partial monosomy syndrome1 test
  • Angelman syndrome1 test
  • Ashkenazi Jewish disorders1 test
  • Bloom syndrome2 tests
  • Cystic fibrosis1 test
  • Deafness, autosomal dominant 3a2 tests
  • Deafness, autosomal dominant 3b2 tests
  • Deafness, autosomal recessive 1A3 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial3 tests
  • Diabetes Mellitus, 6q24-Related Transient Neonatal1 test
  • Dilated cardiomyopathy 1A1 test
  • Familial dysautonomia2 tests
  • Fanconi anemia, complementation group C2 tests
  • Fatal familial insomnia1 test
  • Fragile X syndrome1 test
  • Fragile X tremor/ataxia syndrome1 test
  • Fumarase deficiency1 test
  • Ganglioside sialidase deficiency2 tests
  • Gaucher disease2 tests
  • Genetic prion diseases1 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemochromatosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary thrombophilia1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Huntington disease-like 11 test
  • Jakob-Creutzfeldt disease1 test
  • Kallmann syndrome 11 test
  • Leigh Syndrome (nuclear DNA mutation)1 test
  • Lissencephaly 11 test
  • Lynch syndrome1 test
  • Lynch syndrome I1 test
  • MTHFR deficiency, thermolabile type2 tests
  • Maple syrup urine disease, type 31 test
  • Mast syndrome1 test
  • Niemann-Pick disease, type A1 test
  • Prader-Willi syndrome1 test
  • Propionic acidemia1 test
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase complex deficiency1 test
  • Pyruvate dehydrogenase e1-alpha deficiency1 test
  • Pyruvate dehydrogenase e1-beta deficiency1 test
  • Pyruvate dehydrogenase e3-binding protein deficiency1 test
  • Retinoblastoma1 test
  • Rubinstein-Taybi syndrome1 test
  • Russell-Silver syndrome1 test
  • Shprintzen syndrome1 test
  • Smith-Magenis syndrome1 test
  • Sotos' syndrome1 test
  • Spermatogenic failure, Y-linked 21 test
  • Sphingomyelin/cholesterol lipidosis1 test
  • Spongy degeneration of central nervous system2 tests
  • Tay-Sachs disease2 tests
  • Thrombophilia3 tests
  • Thrombophilia due to activated protein C resistance2 tests
  • Transient neonatal diabetes mellitus 11 test
  • Turcot syndrome3 tests
  • Uniparental disomy of chromosome 14, maternal1 test
  • Uniparental disomy, paternal, chromosome 141 test
  • Williams syndrome1 test
  • X-linked Leigh 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


  • CLIAHelp, Number: 36D0656024, Expiration date: 2015-08-24
  • CAP, Number: 2540401, Expiration date: 2015-04-16

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.

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