- Transaction Code: 3250-07
- CPT Code (Suggested): 83890, 83892, 83894, 83898, 83912
Methylene-tetrahydrofolate reductase (MTHFR) is a gene that produces an enzyme also called Methylene-tetrahydrofolate reductase. A mutation (C677T) in the gene inhibits the production of this enzyme and may lead to build up of homocysteine in the bloodstream, and consequently, may increase the risk of thrombosis.
The Method used for testing is PCR-RFLP. In brief, DNA is isolated from whole blood and subject to amplification with primers that recognize the polymorphic site. The amplified product is subjected to an enzyme which cleaves the amplified product at the mutation site and a gel electrophoresis enables a visual record of the results.
- Sample Required: 5 ml Whole Blood EDTA (purple top)
- Test Values: Homozygous normal. Heterozygous or Homozygous Abnormal
- Analytic Time: Run weekly (Tuesdays) on samples received Wednesday through Monday noon; abnormal tests are confirmed by repeating tests.
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