MTHFR Genotyping

MTHFR is an enzyme that helps process folate, a form of vitamin B, which plays an important role in DNA synthesis and regulation of homocysteine levels. Major substrates include methotrexate, a drug commonly used in chemotherapy and rheumatoid arthritis. Patients who are initiating folate or methotrexate therapies or have a history of adverse effects or treatment failure should consider MTHFR genotyping.

Indication for Testing

Individuals with a personal or family history of adverse drug effects to methotrexate. Confirm the presence of genotypes that affect the metabolism of drugs that are metabolized by this pathway.

Specimen Information
Please call Client Services at 800-523-6487 to obtain specimen kits.

Buccal Swabs: 4 sterile buccal swabs
Blood: 5-10 cc whole blood lavender-top EDTA or Yellow-top ACD-A tubes
Turnaround Time: 5 days, 4 day STAT

CPT Codes
MTHFR Mutation DNA Analysis (provided for your guidance only)
81291

Additional Info

If you would like to learn more about MTHFR, click here to view the short webinar, Introducing the MTHFR Gene.

Clinical Significance

Variations to MTHFR have been associated with an increased risk of methotrexate toxicity.1-6 Age, gender, ethnicity, concomitant medications and environmental influences may also influence variation.

Prevalence
Certain polymorphisms show differing prevalence based on ethnic background.

Frequency of MTHFR Alleles with Clinical Relevance