Molecular Diagnostics

The Molecular Diagnostics laboratory specializes in developing molecular tests in genetics, virology, and oncology.  Our testing methodologies include real-time polymerase chain reaction (PCR) and in situ hybridization.

The molecular genetics lab focuses on identifying mutations in genes involved in the coagulation pathway that may increase a patient’s risk for thrombosis.  The genetics group also provides testing for mutations associated with Cystic Fibrosis (CF). CF carrier testing is offered to individuals with a known family history of CF, reproductive partners of individuals who are affected with CF or who are CF carriers, and couples of child-bearing age regardless of family history. 

For patients diagnosed with chronic hepatitis C viral infections or HIV, the molecular virology lab performs real time PCR to monitor patients’ responses to anti-viral therapy.  For hepatitis C-infected individuals, the lab also characterizes viral genotypes to determine dosing and duration of anti-viral therapy.

The molecular oncology lab analyzes HER2/neu gene amplification in breast cancer tissue specimens to identify women who are potential candidates for Herceptin, a monoclonal therapy that specifically targets tumor cells that over-express the HER2 protein.  The test is also used for assessing patient prognosis and indicates the likelihood of response to certain chemotherapeutic agents.

Scientific Director:  Barbara Paynton, PhD
Technical Specialist:  Vacant