MTHFR is an enzyme involved in folate and homocysteine metabolism. Common variants — particularly C677T and A1298C — reduce enzyme activity and were historically associated with elevated homocysteine and various conditions. However, professional guidelines now generally do not recommend routine MTHFR testing because the variants are common and their clinical significance for most outcomes (including thrombosis and pregnancy outcomes) is limited.
This test is occasionally used in evaluation of unexplained elevated homocysteine and in selected clinical situations, though its routine use is discouraged by many professional societies. Sample type is whole blood in an EDTA tube.
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