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Home / Test Menu / MTHFR

MTHFR Genotyping

MTHFR Genotyping by GenelexMTHFR 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

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 (preferred)
  • 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

Individual Genes Tested

CYP2C9
CYP2C19
CYP2D6
CYP3A4 / CYP3A5
ADRA2A
CYP1A2
CYP2B6
CYP4F2 / VKORC1
COMT
DPYD
Factor II - Factor V Leiden
GRIK4
HLA-A or HLA-B
HTR2A
HTR2C
IFNL3
MTHFR
NAT2
OPRM1
SLCO1B1
TPMT
UGT1A1

Improving Drug Efficacy

Genelex's pharmacogenetic testing bridges the gap in understanding how the role of PGx can help in patient care and offers a simple DNA test and provides you with a report of the results that you and your doctor can discuss.

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Seattle, WA 98121

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