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5,10-Methylenetetrahydrofolate Reductase (MTHFR) Molecular Assay


Definition


  • Mutations, C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene increase the risk of thrombosis (OMIM# 188050) and other cardiovascular disorders as a result of an elevated plasma homocysteine concentration (OMIM# 236250).
  • Normal values: negative or no mutations are found.

Use


  • Suspected coronary artery disease, homocystinuria, neural tube defects, spontaneous abortion, or MTHFR deficiency

Limitations


  • The results of a genetic test may be affected by DNA rearrangements, blood transfusion, bone marrow transplantation, or rare sequence variations.
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