MTHFR Gene Test Description

MTHFR stands for methylenetetrahydrofolate reductase. An MTHFR gene test can ascertain whether an individual has one of the common genetic mutations which leads to methyl folate deficiency, and can verify when supplementation of this special form of folate is warranted.

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 L-methylfolate levels is associated with symptoms and conditions such as mental health disorders, cardiovascular disease, obesity and birth defects.

For a more comprehensive look into Methylation and the various genes involved, you may be interested in the myDNA Health and Methylation panel.

dna cell, helix | mthfr test | perpetual Wellbeing

Common symptoms and conditions associated with MTHFR polymorphisms:

  • Alcohol withdrawal seizure
  • Hypertension
  • Autism
  • Increased breast cancer risk (women >55 years)
  • Cardiovascular disease: thromboembolism,
  • therosclerosis, 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


Book an online consultation or a face to face appointment at our Brisbane or Graceville clinics with one of our naturopaths and let us help you understand if methyl folate deficiency is an underlying cause of your health issues.

test pricing guide is available here.

What We Can Help With

The team at Perpetual Wellbeing support the health and wellbeing of the whole family. We promote a more scientifically-based approach to natural healthcare, to help detect the root cause of health issues and treat patients for long-term good health.

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