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Methylenetetrahydrofolate Reductase

Order Code CH779
Turnaround Time 7-10 days
Specimen Requirements
Specimen Source
Whole blood
Transport Container
(Specimen Container)

EDTA (lavender-top) tube

Preferred Specimens
5 mL whole blood
Minimum Volume (uL)
3 mL
Collection Instructions
(Transport Temperature)
Transport at Room Temperature
Specimen Stability
Temperature Period
Room temperature 8 days
Refrigerated 8 days
Frozen 30 days
Special Instructions

Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information. Transport at Room Temperature. Frozen shipping is acceptable.

Test Details
Polymerase Chain Reaction and Detection
Clinical Significance

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. Physician Attestation of Informed Consent This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Reference Ranges

See Laboratory Report

Alternative Names