Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis : 17911

MTHFRQ or 17911

MTHFR; MTHFR C677T; MTHFR A1298C

This test determines if a patient has two, one, or no copies of either of two mutations in the MTHFR gene, C677T and A1298C.

EDTA lavender tube. 5 mL (Min: 3 mL). Also acceptable: EDTA Royal blue, Green top Sodium Heparin, Yellow ACD A or B.

Submit whole blood.

Refrigerated.

Ambient: 8 days; Refrigerated: 8 days; Frozen: 30 days

Sunday - Saturday

3-4 days (From receipt at performing laboratory)

This test was developed and its performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.

By report.

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.