Test Summary
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.
Aliases
Specimen Collection
Special Instructions
N/A
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Instructions
Extracted DNA: Please call 1-866-GENE-INFO or 1-866-436-4636 for additional information.
Frozen shipping is acceptable.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: 30 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.
Other Acceptable Specimens
Whole blood collected in: sodium heparin (green-top), lithium heparin (green-top) tube, or acid citrate dextrose ACD (yellow-top) tube
Unacceptable Specimens
N/A
Order Code
MTHFR
EPIC (Premier) Code
LAB1248
Includes
N/A
CPT Code
Billing Code
CPT Statement
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 the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
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.
Testing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675
Department
Reference Testing
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Daily; Report available: 4 - 5 days
Specimen Collection
Special Instructions
N/A
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Instructions
Extracted DNA: Please call 1-866-GENE-INFO or 1-866-436-4636 for additional information.
Frozen shipping is acceptable.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: 30 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.
Other Acceptable Specimens
Whole blood collected in: sodium heparin (green-top), lithium heparin (green-top) tube, or acid citrate dextrose ACD (yellow-top) tube
Unacceptable Specimens
N/A
Billing
CPT Code
Billing Code
CPT Statement
Result Information
Methodology
Polymerase Chain Reaction and Detection
Testing Laboratory
N/A
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Daily; Report available: 4 - 5 days
