Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis : 17911

Test Code
MTHFRQ or 17911

Alias/See Also

CPT Codes

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.

Transport Container
Submit whole blood.

Transport Temperature

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

Polymerase Chain Reaction & Detection

Setup Schedule
Sunday - Saturday

Report Available
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.

Reference Range
By report.

Clinical Significance
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.

Performing Laboratory
Quest Diagnostics

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.