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The methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. It is not routinely ordered.
The MTHFR C677T mutation affects the enzyme methylenetetrahydrofolate reductase, which is the rate-limiting enzyme in the formation of 5-methyltetraydrofolate (5-MTHF), or methylfolate.If you have the C677T mutation, your ability to convert folic acid into methylfolate is significantly reduced.levated homocysteine levels can cause oxidative stress and increase your risk of heart disease. Genetic Testing You can easily find out if you have the MTHFR C677T mutation by ordering a DNA test kit from 23andMe ($99). Once you receive your results, go to Genetic Genie for methylation analysis (free).