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|  University of Pennsylvania |
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| University of Pennsylvania |
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.
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)
• Cancer Gene Panel
• Overgrowth Panel
• Uveal Melanoma
• Uveal Melanoma-Related Gene Panel: GNAQ, GNA11 and BAP1
