The Genetic Diagnostic Laboratory currently performs the following tests:
- Beckwith-Wiedemann Syndrome (BWS)
- Congenital Hyperinsulinism (CHI)
- Fibrodysplasia Ossificans Progressiva (FOP)
- Hemophilia A (Factor VIII) and Hemophilia B (Factor IX)
- Hereditary Hemorrhagic Telangiectasia (HHT)
- IMAGe Syndrome
- Retinoblastoma (RB1)
- Russell-Silver syndrome (RSS)
- X-Inactivation Studies
- Sturge-Weber Syndrome/Non-Syndromic Port-Wine Stain Testing (SWS)
Personalized Medicine Risk Assessment
- Cancer Gene Panel
- Overgrowth Panel
- Uveal Melanoma
- Uveal Melanoma-Related Gene Panel: GNAQ, GNA11 and BAP1
The Genetic Diagnostic Laboratory no longer performs full sequencing of the following genes: APC, MYH, TP53, MLH1, MSH2 and MSH6. Site specific analysis for these genes is still available for family members of individuals who previously had testing at our laboratory.
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