Useful For: Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis – Reduced methylenetetrahydrofolate reductase (MTHFR) enzyme activity is a genetic risk factor for hyperhomocysteinemia, especially when present with low serum folate levels. Two common variants in the MTHFR gene result in reduced enzyme activity. The “thermolabile” variant C677T [NM 005957.3: c.665C>T (p.A222V)] and A1298C [c. 1286A>C (p.E429A)] occur frequently in the general population. Mild to moderate hyperhomocysteinemia has been identified as a risk factor for coronary artery disease and venous thromboembolism. Hyperhomocysteinemia is multifactorial, involving a combination of genetic, physiologic and environmental factors. Recent studies do not support the previously described association of increased risk for coronary artery disease and venous thromboembolism with mild hyperhomocysteinemia caused by reduced MTHFR activity. Therefore, the utility of MTHFR variant testing is uncertain and is not recommended.
Methodology: Polymerase Chain Reaction and Detection
Specimen Requirements: 2 lavender-top (EDTA) tubes (minimum: 3.0 mL of whole blood). Forward promptly at room temperature.
• light yellow-top (ACD-B) tube is also acceptable.
• Bone marrow and buffy coat are also acceptable. Reference values do not apply to bone marrow or buffy coat.
Analytical Time: 5 days
Days Set Up: Monday, Wednesday, Friday