Center for Human Genetics Laboratory

Personnel

Director: Shashirekha Shetty, PhD, ABMGG Board Certified, FAAOS, Diplomate of the American Board of, Lab Director
Phone: 216-983-1121
Fax: 216-983-1144
Email: Shashirekha.Shetty@uhhospitals.org

Conditions and tests

31 conditions/phenotypes with 26 tests
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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

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., 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.