Diagnostic Tests

The Genetic Diagnostic Laboratory currently performs the following tests:

Diagnostic 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)
• SMAD4
• X-Inactivation Studies

Personalized Medicine Risk Assessment

• Cancer Gene Panel
• Myocardial Infarction Risk Assessment
• Uveal Melanoma
• Uveal Melanoma-Related Gene Panel: GNAQ, GNA11 and BAP1

Consent Forms

• Spanish Consent for DNA Testing
• English Version of Spanish Consent

All forms are in format.