Center for Human Genetics Laboratory - Submitter

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

Jirair Bedoyan, Contact
Phone: 216-844-3936
Email: [email protected]

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

Summary of submissions to ClinVar

Total submissions: 1

Gene

Gene	Submissions	Last Updated
PDHA1	1	May 10, 2019

Condition

Name	Submissions	Last Updated
Pyruvate dehydrogenase complex deficiency	1	May 10, 2019

Testing in GTR

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Disease name	Number of tests
46,XX testicular disorder of sex development	1 test
46,XY sex reversal 1	1 test
5p partial monosomy syndrome	1 test
Angelman syndrome	1 test
Cystic fibrosis	1 test
Diabetes mellitus, transient neonatal, 1	1 test
Fatal familial insomnia	1 test
Fragile X syndrome	1 test
Fragile X-associated tremor/ataxia syndrome	1 test
Gerstmann-Straussler-Scheinker syndrome	1 test
Hemochromatosis type 1	1 test
Hereditary thrombophilia	1 test
Hidrotic ectodermal dysplasia syndrome	1 test
Huntington disease-like 1	1 test
Hypogonadotropic hypogonadism 1 with or without anosmia	1 test
Inherited Creutzfeldt-Jakob disease	1 test
Inherited prion disease	1 test
Lissencephaly due to LIS1 mutation	1 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect	1 test
Paternal uniparental disomy of chromosome 14	1 test
Prader-Willi syndrome	1 test
Retinoblastoma	1 test
Silver-Russell syndrome 1	1 test
Smith-Magenis syndrome	1 test
Spermatogenic failure, Y-linked, 2	1 test
Thrombophilia	1 test
Thrombophilia due to activated protein C resistance	2 tests
Thrombophilia due to thrombin defect	2 tests
Velocardiofacial syndrome	1 test
Williams syndrome	1 test
X-linked ichthyosis with steryl-sulfatase deficiency	1 test

ClinVar

Relating variation to medicine