The Genetic Diagnostic Laboratory currently performs the following tests:
- Beckwith-Wiedemann Syndrome (BWS)
- 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)
- X-Inactivation Studies
- Sturge-Weber Syndrome/Non-Syndromic Port-Wine Stain Testing (SWS)
Personalized Medicine Risk Assessment
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