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Genetic Diagnostic Laboratory (University of Pennsylvania School of Medicine)

General information

Genetic Diagnostic Laboratory
University of Pennsylvania School of Medicine
560 Clinical Research Building
415 Curie Boulevard
Philadelphia
Pennsylvania
United States - 19104
https://genetics.med.upenn.edu/cores/genetic-diagnostic-laboratory/
Organization ID: 1224

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 68

    Gene

    GeneSubmissionsLast Updated
    RB168Apr 11, 2014

    Condition

    NameSubmissionsLast Updated
    Retinoblastoma68Apr 11, 2014

    Testing in GTR

    Disease nameNumber of tests
    11p partial monosomy syndrome1 test
    BAP1-related tumor predisposition syndrome1 test
    Beckwith-Wiedemann syndrome2 tests
    CLAPO syndrome1 test
    CLOVES syndrome2 tests
    Cardiofaciocutaneous syndrome 11 test
    Cardiofaciocutaneous syndrome 21 test
    Cardiofaciocutaneous syndrome 31 test
    Cardiofaciocutaneous syndrome 41 test
    Congenital macrodactylia1 test
    Costello syndrome1 test
    Exercise-induced hyperinsulinism1 test
    Familial hyperinsulinism2 tests
    Hemihypertrophy1 test
    Hemophilia2 tests
    Hemophilia B leyden1 test
    Hennekam lymphangiectasia-lymphedema syndrome1 test
    Hereditary factor IX deficiency disease1 test
    Hereditary factor VIII deficiency disease1 test
    Hyperinsulinemic hypoglycemia, familial, 12 tests
    Hyperinsulinemic hypoglycemia, familial, 22 tests
    Hyperinsulinemic hypoglycemia, familial, 41 test
    Hyperinsulinism due to glucokinase deficiency2 tests
    Hyperinsulinism-hyperammonemia syndrome2 tests
    IMAGe syndrome1 test
    Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
    Juvenile myelomonocytic leukemia1 test
    Maturity-onset diabetes of the young type 11 test
    Maturity-onset diabetes of the young type 101 test
    Maturity-onset diabetes of the young type 111 test
    Maturity-onset diabetes of the young type 131 test
    Maturity-onset diabetes of the young type 21 test
    Maturity-onset diabetes of the young type 31 test
    Maturity-onset diabetes of the young type 41 test
    Maturity-onset diabetes of the young type 61 test
    Maturity-onset diabetes of the young type 71 test
    Maturity-onset diabetes of the young type 81 test
    Maturity-onset diabetes of the young type 91 test
    Megalencephaly, autosomal dominant1 test
    Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
    Melanoma, uveal, susceptibility to, 11 test
    Melanoma, uveal, susceptibility to, 21 test
    Mesothelioma1 test
    Noonan syndrome1 test
    Noonan syndrome with multiple lentigines1 test
    Noonan syndrome-like disorder with loose anagen hair 11 test
    Overgrowth syndrome1 test
    PEHO syndrome1 test
    PIK3CA related overgrowth syndrome1 test
    Permanent neonatal diabetes mellitus1 test
    Primary lymphedema1 test
    Progressive myositis ossificans1 test
    Proteus syndrome1 test
    Qualitative or quantitative defects of dystrophin1 test
    RASopathy1 test
    Renal cysts and diabetes syndrome1 test
    Retinoblastoma1 test
    Silver-Russell syndrome 11 test
    Silver-Russell syndrome due to an imprinting defect of 11p151 test
    Sturge-Weber syndrome1 test
    Telangiectasia, hereditary hemorrhagic, type 11 test
    Telangiectasia, hereditary hemorrhagic, type 21 test
    X-linked ichthyosis with steryl-sulfatase deficiency1 test