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Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis
Test Code17911
CPT Codes
81291
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.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
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
Instructions
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.
Frozen shipping is acceptable.
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
Refrigerated: 8 days
Frozen: 30 days
Methodology
Polymerase Chain Reaction and Detection
FDA Status
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.
Setup Schedule
Daily
Report Available
3-4 days
Limitations
The purpose of this test is to determine if you have two, one, or no copies of either of two mutations in the MTHFR gene, C677T and A1298C.
Reference Range
See Laboratory 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 Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |