MTHFR Gene Test – Buccal Swab
$95.90
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.
Description
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.
What Does It Measure?
C677T Variant
The most clinically significant MTHFR polymorphism. Heterozygous carriers (one copy) have approximately 35% reduced enzyme activity. Homozygous carriers (two copies) have up to 70% reduced activity — significantly impairing folate metabolism and increasing homocysteine levels.
A1298C Variant
The second major MTHFR polymorphism. On its own, A1298C has a milder clinical impact than C677T. However, compound heterozygosity (one copy of each variant) can produce clinically meaningful methylation impairment — particularly affecting BH4 (tetrahydrobiopterin) production, which is essential for neurotransmitter synthesis.
Genotype Combinations
Your result will show one of several possible genotype combinations: normal/normal, heterozygous C677T, homozygous C677T, heterozygous A1298C, homozygous A1298C, or compound heterozygous (C677T + A1298C). Each combination carries different clinical implications that Rohan will explain in detail during your consultation.
Who Should Consider This Test?
This test is particularly valuable for patients experiencing:
• Depression, anxiety, or mood instability — especially if 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
• Patients with known methylation issues who want genetic confirmation
Sample Collection
Sample type: Buccal swab (cheek cells)
Collection method: Simple cheek swab — rub the provided swab firmly against the inside of each cheek for 30 seconds
Fasting required: No
Diet restrictions: Avoid eating, drinking, or brushing teeth for 30 minutes before collection
Medications: No restrictions — genetic results are not affected by supplements or medications
Turnaround Time
Results are typically returned within 3 weeks from the date the laboratory receives your sample.
What Happens After You Order
1. Kit dispatched — Your buccal swab collection kit is posted directly to your door with full instructions.
2. Collect at home — Follow the simple cheek swab protocol (takes under 2 minutes).
3. Post back — Mail the completed kit to the lab using the prepaid return envelope.
4. Results released to you — If you’re an existing patient, Rohan will go through the result with you at your next appointment. If you have your own practitioner, you’re welcome to order through Elemental Health and share the results with them directly.
Why Choose Elemental Health?
MTHFR and methylation are among Rohan’s core clinical specialties — he has spent over 13 years working with patients carrying these variants and understands how to translate genetic data into practical treatment decisions. Every result is reviewed in the context of your full clinical picture, not just the gene variant in isolation. Your consultation will include a clear, prioritised strategy covering targeted supplementation, dietary support, and any complementary testing (such as the Methylation Panel) that may be warranted.
