Mutations in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of thrombosis and other vascular diseases as a result of elevated serum homocysteine. The mutation “C677T” of the MTHFR gene is examined. About 35% of the population is heterozygous (carriers) for the C677T mutation. Homozygotes for the C677T mutation (12% of the population) will have significantly higher mean plasma homocysteine concentrations, and the associated higher risk of vascular disease.
Analysis for the MTHFR mutation is offered as a specific DNA test, or as part of the Thrombosis panel which also includes the Prothrombin (Factor II) G20210A mutation analysis and the factor V Leiden mutation analysis. Individuals with multiple thrombophilic mutations develop venous thromboembolism at a younger age and are at higher risk for recurrent thrombosis than those with a single defect.
Indications for Testing: Elevated plasma homocysteine levels Premature cardiovascular disease Peripheral vascular artery disease Acute myocardial infarction Stroke History of thromboembolism
Sample Requirements: 5 mL whole blood in purple top (EDTA) tube
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 3-9 days
Cost/CPT codes: $114.80 / 83890, 83892(x2), 83896(x4), 83912