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Genetic Diagnostic Laboratory (Penn)

Director: Ganguly, Arupa, PhD

Summary:

The Genetic Diagnostic Laboratory is a non–profit laboratory at the University of Pennsylvania. Established in 1994, the Genetic Diagnostic Laboratory has had the pleasure to serve patients, physicians, and other members of the medical and research community in many states in the U.S., as well as in over 24 countries worldwide.

Our mission is to evaluate an individual's DNA to discover a genetic cause for their disease or physical symptoms, provide interpretation of the genetic finding and its association with disease, develop new methods for analyzing genes, and introduce new testing to improve patient care.

The Genetic Diagnostic Laboratory is CLIA certified and has state permits for California and Maryland. The staff of the Genetic Diagnostic Laboratory includes highly trained and experienced laboratory technicians, as well as a genetic counselor, who work continually to provide their services in a timely and professional manner.

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Services

  • Diagnostic test service ( Material analysis service )

    The Genetic Diagnostic Laboratory currently performs the following tests:

    Diagnostic Tests

    BAP1
    Beckwith-Wiedemann Syndrome (BWS)
    Congenital Hyperinsulinism (CHI)
    Familial Adenomatous Polyposis (FAP)
    Fibrodysplasia Ossificans Progressiva (FOP)
    Hemophilia A (Factor VIII) and Hemophilia B (Factor IX)
    Hereditary Hemorrhagic Telangiectasia (HHT)
    Hereditary Nonpolyposis Colorectal Cancer (hMSH2 and hMLH1)
    IMAGe Syndrome
    Li-Fraumeni Syndrome (p53)
    Retinoblastoma (RB1)
    Russell-Silver syndrome (RSS)
    SMAD4
    X-Inactivation Studies
    Sturge-Weber Syndrome/Non-Syndromic Port-Wine Stain Testing (SWS)

  • Personalized medicine risk assessment service ( Material analysis service )

    • Cancer Gene Panel
    • Overgrowth Panel
    • Uveal Melanoma
    • Uveal Melanoma-Related Gene Panel: GNAQ, GNA11 and BAP1


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Last updated: 2016-04-11T14:37:42.133-04:00

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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016