Do I need a MTHFR Genetic Variant test?

Do you have a family history of heart disease, struggle with energy levels, or have been through multiple miscarriages? A MTHFR genetic variant test may help explain why your body processes certain nutrients differently than others.

This biomarker measures variations in your MTHFR gene to assess how efficiently your body converts folate into its active form and manages homocysteine levels.

Understanding your MTHFR status can help you make informed choices about nutrition, supplementation, and lifestyle factors that support your long-term health. When you know how your genes influence folate metabolism, you're better equipped to work with your healthcare provider on a personalised approach. Listen Health includes MTHFR testing as part of our comprehensive genetic screening, giving you one step closer to understanding your unique biology.

MTHFR Genetic Variant — Key Facts
MeasuresImpacts how your body processes folate and regulates homocysteine
CategoryGenetics
Tested inListen Health Standard & Premium membership (100+ biomarkers)
Reviewed byDr Jamie Deans, MBChB

What is it?

Methylenetetrahydrofolate Reductase (MTHFR) is an enzyme that helps convert folate (vitamin B9) into its active form — 5-methyltetrahydrofolate — which the body uses to recycle homocysteine into methionine, an amino acid essential for DNA synthesis, methylation, and neurotransmitter balance.

Genetic variations in the MTHFR gene, particularly C677T and A1298C, can reduce the enzyme’s efficiency. This may lead to elevated homocysteine levels, altered folate metabolism, and potential effects on cardiovascular and reproductive health.

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Why does it matter?

MTHFR function plays a central role in folate metabolism, detoxification, and methylation, which influence energy production, mood regulation, cardiovascular function, and pregnancy outcomes.

  • Reduced enzyme activity (from certain MTHFR variants) can cause higher homocysteine, a marker associated with increased cardiovascular and metabolic stress.

  • Elevated homocysteine has been linked to heart disease, stroke, and neural tube defects in developing embryos.

  • However, having an MTHFR variant does not automatically mean increased disease risk — outcomes depend on diet, lifestyle, and other genetic factors.

Monitoring MTHFR and homocysteine together helps clarify whether your body is effectively managing methylation and folate pathways.

What causes fluctuations?

Several genetic, nutritional, and lifestyle factors influence MTHFR activity and homocysteine levels:

  • Genetic polymorphisms: The C677T and A1298C variants reduce enzyme efficiency.

  • Folate and B-vitamin intake: Low intake of folate, B12, or B6 can raise homocysteine levels.

  • Lifestyle factors: Smoking, alcohol, and physical inactivity all increase homocysteine.

  • Age and hormones: Folate metabolism tends to slow with age; hormonal changes (e.g. menopause) can also impact methylation.

  • Medications: Some drugs, such as methotrexate or certain antiepileptics, can interfere with folate pathways.

Recommendations

To support MTHFR function:

  1. Prioritise folate-rich foods

  • Include leafy greens, avocado, asparagus, lentils, and fortified whole grains daily.

  • Choose natural folate from food over synthetic folic acid if you have MTHFR variants, or use methylated folate (5-MTHF) supplements if recommended.

  1. Add complementary B vitamins

  • Vitamin B12 (fish, eggs, dairy, nutritional yeast) and vitamin B6 (chickpeas, bananas, poultry) work with folate to recycle homocysteine.

  1. Support methylation and detox pathways

  • Ensure adequate magnesium, zinc, and choline (found in eggs, fish, leafy greens, and nuts).

  • Stay hydrated and prioritise daily movement to support circulation and metabolism.

  1. Limit stressors

  • Reduce smoking, alcohol, and processed foods, which can elevate oxidative stress and impair methylation.

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AHPRA Disclaimer: This information is general in nature and should not replace individual medical advice. Always discuss your test results and health concerns with a registered healthcare practitioner.