METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR), DNA

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.

Preferred Specimen(s)
5 mL whole blood collected in an EDTA (lavender-top) tube

Alternative Specimen(s)
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) tube, or lithium heparin (green-top) tube

Minimum Volume
3 mL

Collection Instructions
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.

Frozen shipping is acceptable.

Transport Container
EDTA (lavender-top) tube

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: 30 days
Setup Schedule

Methodology
Polymerase Chain Reaction and Detection

Assay Category
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)
See Laboratory Report

Alternative Name(s)
MTHFR