Direct mutation analysis using PCR amplification, signal generation, and release by cleavage of sequence-specific alleles.
Direct mutation analysis for the MTHFR C677T and/or A1298C mutations should be reserved for patients with coronary artery disease, acute myocardial infarction, peripheral vascular artery disease, stroke, or venous thromboembolism who have increased basal homocysteine levels or an abnormal methionine-load test.
3 - 5 days
- C677T MTHFR Mutation
- Methylenetetrahydrofolate Reductase by DNA Analysis
- MTHFR Mutation Detection
- Homocysteine Mutation Detection
- A1298C MTHFR Mutation
- Methylenetetrahydrofolate Reductase Mutation
Collect blood in a yellow top (ACD solution B) (preferred) or lavender top (EDTA) tube. Send intact whole blood specimen at room temperature (preferred) or refrigerated.
Testing for the A1298C mutation is also available: specify MTHFR A1298C Mutation (Mayo MTHAC) or MTHFR A1298C and C677T Mutations (Mayo MTHP). Test sent to Mayo Medical Laboratories.