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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.
A point mutation, the 677 CâT, in the MTHFR gene renders the enzyme thermolabile and less active (8 ). Homozygosity (TT) for this mutation is common (10â18% in Caucasian populations) and is associated with mild hyperhomocysteinemia, particularly in subjects with low levels of plasma folate (9 ).