The Molecular Diagnostics Laboratory at the University of Massachusetts Academic Health Center provides state-of-the-art, high complexity molecular diagnostics testing. Founded in 2004 as a joint effort between UMass Medical School and UMass Memorial Medical Center, the laboratory is accredited by CLIA and participates in the molecular genetic proficiency surveys offered by the College of American Pathologists (CAP). The laboratory currently offers more than thirty genetic disease and viral load tests, processing over 35,000 specimens annually.

Experienced laboratory scientists in the Molecular Diagnostics Laboratory use modern molecular technologies and software to ensure accurate results and the highest quality of care for patients for carrier and diagnostic genetic screening, and viral testing.

The Molecular Genetic Testing Menu includes:

• Mutation Analysis for hereditary disorders, including cystic fibrosis, hereditary hemochromatosis, and common Ashkenazi Jewish disorders such as Tay Sachs Gaucher disease and Canavan disease;
• Risk Mutation Analysis such as Factor V Leiden, Prothrombin (Factor II), and methylenetetrahydrofolate reductase (MTHFR);
• Pharmacogenetic Assessment for CYP2C9, CYP2C19, warfarin resistance (CYP2C9 +VKORC1) and Irinotecan resistance (UGT1A1);
• Gene Sequencing of the VKORC1 gene (warfarin sensitivity) and of genes responsible for hereditary disorders such as for Fabry and Pompe diseases.

The Viral Testing Menu Includes:

• Viral load testing for Human Immunodeficiency Virus (HIV), Hepatitis C Virus (HCV), Cytomegalovirus (CMV), Hepatitis B Virus (HBV).
• Genotyping for HCV.
• Respiratory viral panel (Infiniti, Autogenomics).

Genetic Counselors are available for comprehensive physician consultations.

CLIA Number: 22D1007769
CAP # 7183270 – 04

Reed Rose and Gordon Building
222 Maple Ave.
Shrewsbury, MA 01545