The MTHFR gene is involved in processing amino acids, specifically in relation to folate metabolism.
The MTHFR gene test identifies two gene variants associated with increased levels of homocysteine in the blood (C677T and A1298C). These variants are common in the general population.3
MTHFR gene testing is promoted by some complementary and alternative practitioners to investigate infertility, recurrent pregnancy loss and risk for particular diseases. However:1–3
- There is no significant evidence of a causal link between MTHFR gene variants and particular diseases.
- MTHFR status does not alter the recommendation that women who are planning a pregnancy or those in the first trimester of pregnancy take folic acid supplements to reduce the risk of neural tube defects.
Patients can obtain MTHFR gene testing through private providers at their own expense.
There is no indication to refer the patient to genetics services. Given the lack of clinical utility, some genetics service providers are no longer accepting patient referrals for consultations in relation to MTHFR.3