Molecular Test Listing

Molecular Requisition

Methylenetetrahydrofolate Reductase Gene (MTHFR)

A variant in the methylenetetrahydrofolate reductase gene (MTHFR) is another common genetic predisposition risk to venous thromboembolisms. Venous thrombosis is a worldwide health problem resulting in significant illness and death. Both genetic as well as environmental factors, e.g. smoking and oral contraceptives, contribute to the incidence of the disease.

An alteration, C677T, in the MTHFR gene which results in a less stable protein, is associated with mild to moderate hyperhomocysteinemia, and a modest increase in thrombosis. Women homozygote for this mutation also have a 2-4 fold increased risk of having a child with spina bifida.

• To determine the potential cause of unexplained thrombosis in children or adults.
• Patients undergoing surgery especially the potentially high-risk class of women taking estrogen supplements.
• Evaluation of individuals before initiation of oral contraceptives.

• Testing may be combined with testing for Prothrombin, Factor V, & HPA1 in a Thrombosis Risk Panel.

• PCR amplification of the region including the C677T mutation, followed by mutation specific restriction enzyme digestion.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     8 working days

CPT CODES: