MTHFR Genotyping
MTHFR is an enzyme that helps process folate, a form of vitamin B. Folate plays an important role in DNA synthesis and the regulation of homocysteine levels. Major substrates include methotrexate, a drug commonly used in chemotherapy and rheumatoid arthritis treatment. Patients who are initiating folate or methotrexate therapies or have a history of adverse effects or treatment failure should consider MTHFR genotyping. Genetic variants tested for MTHFR are c.665C>T (c.677C>T), c.1286A>C (c.1298A>C).
Indication for MTHFR Testing
Individuals with a personal or family history of adverse drug effects to methotrexate. In these cases, it's critical to confirm the presence of genotypes that affect the metabolism of drugs that are metabolized by this pathway.
Insurance Coverage
Check with your insurance provider to see if MTHFR genotyping is covered. The CPT code for MTHFR genotyping is 81291 (provided for your guidance only).
Specimen Collection
Click here to order testing supplies or call Client Services at 800-837-8362.
- Buccal Swabs: 4 sterile buccal swabs
- Blood: 5-10cc whole blood lavender-top EDTA or yellow-top ACD-A tubes
- Turnaround Time: 10 business days, faster turnaround available for clinical trials
Additional Info
If you would like to learn more about MTHFR, click here to view the short webinar introducing the MTHFR gene.