MTHFR Gene Test – Buccal Swab
Price range: $95.90 through $275.90
Simple buccal swab genetic test for the two most clinically significant MTHFR gene variants — C677T and A1298C. Identifies whether you carry mutations that impair folate metabolism and methylation capacity, affecting detoxification, mood, energy, and cardiovascular health.
What is the MTHFR Gene Test?
The MTHFR Gene Test is a simple genetic screening that identifies whether you carry variants (mutations) in the MTHFR gene — specifically the C677T and A1298C polymorphisms. MTHFR (methylenetetrahydrofolate reductase) is the enzyme responsible for converting dietary folate into its active form, methylfolate, which is required for methylation — one of the body's most critical biochemical processes.
Knowing your MTHFR status is clinically valuable because these variants can reduce enzyme activity by 30–70%, directly impairing methylation, detoxification, neurotransmitter production and homocysteine clearance.
Is this test for you?
The MTHFR Gene Test is for people who suspect (or have been told) a methylation issue is in play:
- Depression, anxiety or mood instability resistant to standard treatment
- Elevated homocysteine on routine blood work
- Chronic fatigue with no clear cause
- Recurrent miscarriage or unexplained fertility issues
- Family history of cardiovascular disease, stroke or blood clots
- Family history of neural-tube defects (spina bifida)
- Chemical sensitivity or poor detoxification capacity
- Known methylation issues wanting genetic confirmation
What it measures
Two clinically significant variants plus the combinations that determine actual enzyme activity.
C677T Variant
The most clinically significant MTHFR polymorphism. Heterozygous carriers (one copy) have ~35% reduced enzyme activity. Homozygous (two copies) up to 70% reduction — significantly impairing folate metabolism and raising homocysteine.
A1298C Variant
The second major MTHFR polymorphism. Milder on its own than C677T, but compound heterozygosity (one of each) can produce clinically meaningful methylation impairment — particularly affecting BH4 (tetrahydrobiopterin) production, essential for neurotransmitter synthesis.
Sample collection
Turnaround time
From the date the laboratory receives your sample.
Samples are processed by an Australian NATA-accredited pathology laboratory.
How it works
Kit dispatched
Your buccal swab collection kit is posted directly to your door with full instructions.
Collect at home
Follow the simple cheek swab protocol (under 2 minutes).
Post back
Mail the completed kit to the lab using the prepaid return envelope.
Results released
Your report is emailed to you the moment the lab releases it. What happens next depends on your tier —
- Test only: the report is yours to use as you see fit — no consultation included. You can book a separate consultation with Rohan later if you change your mind.
- Test + 60-min Telehealth Consult: once your results land, Rohan will email you a booking link to schedule your Zoom.
- Existing patients of the clinic: results are typically discussed at your next regular appointment as usual.
Why this test, why now?
MTHFR status is one of the very few genetic findings that directly changes supplementation strategy — specifically the choice between folic acid (the synthetic form) and methylfolate (the active form). Patients with significant MTHFR reductions can struggle to use synthetic folic acid effectively, and may even accumulate it.
For anyone considering methylation support, planning a pregnancy, or already taking B-vitamin supplements, knowing your MTHFR status removes guesswork from a decision that gets made many times over a lifetime.
Why Elemental Health and Nutrition?
MTHFR and methylation are among Rohan's core clinical specialties — over 13 years working with patients carrying these variants and understanding how to translate genetic data into practical treatment decisions. With Test + 60-min Telehealth Consult, your appointment delivers a clear, prioritised strategy covering targeted supplementation, dietary support and any complementary testing (such as the Methylation Panel) that may be warranted.
