(Specimen Container)
EDTA (lavender-top) tube
(Transport Temperature)
| Temperature | Period |
|---|---|
| Room temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | 30 days |
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information. Transport at Room Temperature. Frozen shipping is acceptable.
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.
See Laboratory Report
