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Center for Human Genetics Laboratory (University Hospitals - University Hospitals Laboratory Service Foundation)

General information

Center for Human Genetics Laboratory
University Hospitals - University Hospitals Laboratory Service Foundation
10524 Euclid Ave
6th Floor
Cleveland
Ohio
United States - 44106
http://www.uhhospitals.org/cleveland/services/genetics/laboratory
Organization ID: 1236

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1

Gene

GeneSubmissionsLast Updated
PDHA11May 10, 2019

Condition

NameSubmissionsLast Updated
Pyruvate dehydrogenase complex deficiency1May 10, 2019

Testing in GTR

Disease nameNumber of 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
Hypercoagulability1 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
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
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