A mutation in the methlyenetetrahydrofolate reductace (MTHFR) gene is considered a cause of hyperhomocysteinemia, a leading risk factor for stroke, stillbirths and recurrent pregnancy loss. A decrease in the activity of MTHFR due to mutations leads to a decrease in the metabolism of homocysteine. To test for mutations in the MTHFR gene, you must take a DNA test.
- Skill level:
Things you need
- 5ml blood
- EDTA (lavender top) tube
Consult a doctor. Express your concern and provide family history regarding hyperhomocysteinemia.
Sign up for blood work. The labs will process a PCR analysis for the C677T and the A1298C mutations in the MTHFR gene.
Receive and review the results with your doctor. Express DNA tests may be available for a fee at the processing lab. DNA tests can take up to six weeks to arrive at your doctor's office.
Tips and warnings
- Mutations in the MTHFR gene are only a determinate factor in hyperhomocysteinemia. The leading cause of hyperhomocysteinemia is folate deficiency.
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