MTHFR Genotyping

MTHFR, methylenetetrahydrofolate reductase, is an enzyme that adds a methyl group to folate (vitamin B-9) to make it usable by the body. Folic acid, essential for human growth and development, encourages normal nerve and brain functioning and helps reduce blood levels of the amino acid, homocysteine. Homocysteine is a breakdown product of protein metabolism. Elevated homocysteine levels have been associated with inflammation and heart disease, strokes, increased risk of plaque formation, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.

The MTHFR enzyme is important for converting homocysteine into methionine, which the body needs for proper metabolism, protein synthesis, muscle growth and glutathione creation. Glutathione is the most important master antioxidant and detoxifier of every cell in your body. It is the antioxidant that prevents cellular damage and neutralizes free radicals.

The process of methylation also involves the MTHFR enzyme, so those with a mutation may have trouble effectively eliminating all toxins from the body—environmental and internal. Research estimates that as much as half of the population may have an MTHFR gene mutation, which leads to a highly reduced ability to convert folic acid or folate into its usable form 5-MTHF.


MTHFR testing is recommended for individuals with the following disorders:

  • Homocystinemia

  • Heart Disease

  • Stroke

  • Birth Defects

  • Infertility

  • Polycystic Ovarian Syndrome (PCOS)

  • Autism

  • Depression

  • Anxiety

  • Schizophrenia

  • Cancer

  • Nerve Pain

  • Migraines

  • Ataxia

  • Anemia

  • Mental Health/Behavior Disorders

  • Scoliosis

  • Blood Clots

  • Seizures