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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.
Testing for MTHFR Mutations The first step in treating MTHFR mutations is to accurately test for all MTHFR mutations, as well as other related single-nucleotide polymorphisms (SNPs). Genetic testing is the only reliable method to test for MTHFR mutations.omozygous mutations are more severe than heterozygous mutations and often require additional treatment. If you see a +/+ for any mutation, this means you are homozygous for that mutation. If you see +/- for a mutation, this means you are heterozygous for that mutation. A -/- means you do not have that mutation.