Methylenetetrahydrofolate Reductase (MTHFR) 2 Variants
Also known as: MTHFR PCR
Use
Variants in the MTHFR gene may reduce enzyme activity contributing to hyperhomocysteinemia. Although hyperhomocysteinemia was previously reported to be a risk factor for many conditions, especially venous thrombosis and cardiovascular disease, recent meta-analysis casts doubt on whether lifelong moderate homocysteine elevation has an effect on cardiovascular disease. The American College of Medical Genetics Practice Guidelines indicate that individuals with elevated homocysteine and two copies of the c.665C>T variant have an odds ratio of 1.27 for venous thromboembolism.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Consent forms are available online. For New York clients, informed consent is required with submission.
Limitations
Only two MTHFR gene variants (c.665C>T and c.1286A>C) are tested. Diagnostic errors can occur due to rare sequence variations.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 21709-1
- 28005-7
- 28060-2
- 31208-2
- 28005-7
- 28060-2
- 21709-1
- 31208-2
Result Turnaround Time
2-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temp: Refrigerated.
Causes for Rejection
Plasma or serum. Heparinized specimens. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |
