Genetic polymorphisms in the key enzyme MTHFR (methylenetetrahydrofolate reductase) can lead to a L-methylfolate deficiency which is not detected by standard folate blood tests. MTHFR polymorphisms, and thus lowered Lmethylfolate levels is associated with symptoms and conditions such as mental health disorders, cardiovascular disease, obesity and birth defects. Genetic testing can ascertain whether an individual has one of the common polymorphisms which leads to methylfolate deficiency, and can verify when supplementation of this special form of folate is warranted.

Common symptoms and conditions associated with MTHFR polymorphisms:

  • Alcohol withdrawal seizure
  • Hypertension
  • Autism
  • Increased breast cancer risk (women >55 years)
  • Cardiovascular disease: thromboembolism, atherosclerosis, and myocardial infarction
  • Neural tube and other birth defects
  • Colorectal neoplasias
  • Peripheral neuropathy
  • Dementia and memory loss
  • Reduced lean body mass and increased body fat
  • Depression and irritability
  • Schizophrenia
  • Elevated homocysteine
  • Stroke

This test can be done either by blood sample, or buccal swab. And pricing indication can be found here.