MTHFR Analysis

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. Both the C677T and A1298C mutations of the MTHFR gene are 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. 5-10% of the population is homozygous for the A1298C mutation. Homozygotous A1298C may result in a slightly reduced MTHFR enzyme activity, but the plasma homocysteine level is expected to remain within normal range.

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
  • Recurrent pregnancy loss

Sample Requirements

Infants: 2-3 mL whole blood in purple top EDTA tube
Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube

OMIM # 607093

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, Sixth Floor
Cleveland, OH 44106

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick up.

Turnaround Time

3-9 days

Cost/CPT Code

$200.90 / 81291

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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1-866-UH4-CARE (1-866-844-2273)

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