Test Catalog

Diagnostic Tests

• BAP1
• Beckwith-Wiedemann Syndrome (BWS)
• Congenital Hyperinsulinism (CHI)
• Hemophilia A (Factor VIII) and Hemophilia B (Factor IX)
• Hereditary Hemorrhagic Telangiectasia (HHT)
• Lymphedema
• Maturity-onset Diabetes of the Young (MODY)
• Retinoblastoma (RB1)
• Russell-Silver syndrome (RSS)
• X-Inactivation Studies
• WAGR

Personalized Medicine Risk Assessment

• Somatic Overgrowth and Vascular Malformations Panel
• Uveal Melanoma

Retired Tests

The Genetic Diagnostic Laboratory no longer performs the following tests:

• Full sequencing or site-specific analysis of the following genes: APC, MYH, TP53, MLH1, MSH2 and MSH6 for Familial Adenomatous Polyposis, Li Fraumeni, and Lynch syndrome
• The Uveal Melanoma UMBG Panel
• Somatic Analysis of GNAQ and GNA11
• Testing for IMAGe Syndrome
• Testing for Fibrodysplasia Ossificans Progressiva (FOP)