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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.
MTHFR or Methylenetetrahydrofolate Reductase is the enzyme in the methyl cycle responsible for the remethylation of homocysteine into methionine.Any genetic variations in this gene influence your susceptibility to a countless number of diseases and defects.THFR or Methylenetetrahydrofolate Reductase is the enzyme in the methyl cycle responsible for the remethylation of homocysteine into methionine.