MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test
MTHFR Gene Test

Over 250k Biomarkers Tested

MTHFR Gene Test

$175.00 AUD

Want to know whether you carry MTHFR variants that affect how your body processes folate — and whether that could be influencing your homocysteine, B-vitamin needs, or methylation function?

The MTHFR Gene Test looks for variants in the MTHFR gene (C677T and A1298C) that can reduce the activity of an enzyme involved in folate metabolism and the recycling of homocysteine. Understanding your MTHFR status can help interpret your homocysteine, folate, and B12 levels.

Collection Location
Specimen Type

You will be emailed a referral to take to your local collection centre. If you ever have any questions, we're here to help.

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How It Works

Getting your health measured shouldn't be hard! We're here to help you every step of the way.

1
Order a test

Order a test

Order the private test that suits you and your goals. After ordering, you will receive your referral by email.

2
Collect the sample

Collect the sample

Attend one of our 4000+ partner collection centres throughout Australia. Search locations.

3
Receive your results

Receive your results

View all your lab results in your secure health dashboard. Easy!

Overview

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that converts folate into its active form, 5-methyltetrahydrofolate (5-MTHF). This active folate is needed for the methylation cycle, a biochemical process involved in DNA repair, neurotransmitter production, detoxification, and the recycling of homocysteine back into methionine.

The MTHFR gene test looks for two well-studied variants: C677T and A1298C. These variants can reduce the activity of the MTHFR enzyme, which in turn may lead to less efficient folate processing and higher homocysteine levels. The C677T variant, when present in two copies (homozygous), is associated with approximately 70% reduction in enzyme activity. A1298C has a more modest effect. Having one copy of each (compound heterozygous) falls somewhere in between.

MTHFR variants are common. The C677T variant is carried by roughly 40 to 60% of the population in heterozygous form. Having a variant is not a disease diagnosis. Many people with MTHFR variants have normal homocysteine levels and no symptoms at all. The clinical relevance of the finding depends on whether folate, B12, and homocysteine levels are also affected.

This is a one-time genetic test. Your MTHFR genotype does not change, so repeat testing is not needed. Your practitioner will use the result to interpret related blood markers and guide B-vitamin supplementation decisions where relevant.

Symptoms

To identify MTHFR gene variants that affect folate and methylation metabolism, interpret elevated homocysteine in context, guide B-vitamin strategy, and contribute to an integrative or functional medicine workup.

Questions

  • Very common. The C677T variant is carried by approximately 40–60% of the population in heterozygous form, and around 10–15% in homozygous form, with significant variation between ethnic groups. Having a variant is not a diagnosis of disease — it is information about how your body processes folate.
  • Not necessarily. Many people with MTHFR variants have normal homocysteine levels and no symptoms. The variant becomes more clinically relevant when folate, B12, or B6 levels are also low, or when homocysteine is elevated. The variant provides context, not a diagnosis.
  • No fasting is required. This is a genetic test and the result is not affected by food or time of day.
  • No. Your genetic variants do not change. This is a one-time test.
  • This is a nuanced question that depends on your specific variant, your homocysteine level, and your overall B-vitamin status. Some practitioners recommend methylated forms of folate for people with reduced-function variants. This decision should be made with your practitioner based on your complete picture — not on the MTHFR result alone.

Dr. Vu Tran
Bloody Good’s Chief Medical Officer

Biomarker Tested

How to prepare

No specific preparation is required. No fasting is needed. Because this is a genetic test using DNA from your white blood cells, the result is the same regardless of when or how the blood is drawn. You only need to take this test once.

After the test

Share your result with your GP, integrative medicine practitioner, or a practitioner familiar with methylation assessment. MTHFR variants are common — they are not a disease diagnosis — and most people with variants have no symptoms. However, a positive finding provides context for elevated homocysteine or B-vitamin concerns and may inform supplementation decisions. Practitioners may recommend methylated forms of folate (5-MTHF) or B12 (methylcobalamin or hydroxocobalamin) rather than standard folic acid or cyanocobalamin.

Your test results will be available in your private dashboard. If there are any urgent issues, we'll let you know so you can follow up with your health professional.

Understanding results

The test reports your genotype for each variant (C677T and A1298C). Possible results for each:

- Negative (wild type): No variant detected at this position
- Heterozygous: One copy of the variant (one from each parent) — moderate impact on enzyme activity
- Homozygous: Two copies of the same variant — greater impact on enzyme activity

C677T homozygous: Associated with the greatest reduction in MTHFR enzyme activity (approximately 70% reduction). Highest association with elevated homocysteine, particularly when folate and B12 are not optimal.

A1298C homozygous: Associated with a more modest reduction in enzyme activity.

Compound heterozygous (one C677T + one A1298C): Also associated with reduced enzyme function — clinical significance is intermediate between the two homozygous states.

The significance of MTHFR variants is most meaningful when interpreted alongside actual homocysteine, folate, and B12 levels rather than as an isolated genetic finding.

Testimonials

What Our Customers Say

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Frequently bought together

Frequently Asked Questions

Most collection centres accept walk-ins. Some may require a booking - check details when you click on your chosen location.

If your test needs fasting, we’ll include that in your instructions after you order. Fasting usually means no food for 8–12 hours, but water is fine.

Just your pathology referral form (we email it to you)

Of course. Just maybe don’t bring the friend who faints at the sight of blood.

They’re the highly trained professionals who take your blood sample - with a steady hand and a sharp needle. They love blood, but don’t worry… they’re not vampires. Just legends who make blood tests quick, clean, and (almost) painless.

Some of our tests include Urine, Stool, Saliva and more. Each test will have a clear description on what sample you will need to give and instructions on how.