Search Health Tests
father-child-banner

MTHFR Blood Test

2 biomarkers included
MTHFR is a gene that codes for an enzyme in the folate pathway. This test genotypes the two most studied variants, C677T and A1298C, and reports which copies you carry. It tells you about your genetics, not your current folate status — if you want to know whether your folate metabolism is actually affected, a homocysteine blood test measures that directly, and is the better starting point.
$69 AUD
What is MTHFR?

What MTHFR does, and what the variants mean

MTHFR is an enzyme that helps our body convert folate (a B vitamin found in many foods) into a form that can be used to regulate the levels of homocysteine in our blood. Homocysteine is an amino acid that can be harmful to our health when present in high levels. The MTHFR enzyme also plays a role in the production of an important molecule called SAM, which is needed for many biological processes in our body, including the production of neurotransmitters (chemicals that help our brain function).

A defect in the MTHFR gene

What your results look like, and what to do with them

Genetic variations in the MTHFR gene can result in altered enzyme activity, leading to lower levels of folate and higher levels of homocysteine in the body. MTHFR testing is a simple blood test that can identify genetic variations in the MTHFR gene. Individuals with MTHFR gene variations may benefit from personalised treatment strategies to optimise their folate and homocysteine levels. These strategies may include dietary modifications, supplementation with folic acid or other forms of folate, and medications that lower homocysteine levels.

We can also offer a cheek swab home collection version of this test which can be ordered online - MTHFR Check - cheek swab

What's included

MTHFR testing is a simple test that can identify genetic variations in the MTHFR gene. Two common variations in the MTHFR gene are known as C677T and A1298C. The C677T variation results in a reduction in MTHFR enzyme activity, leading to higher levels of homocysteine in the body. The A1298C variation is less well understood but may also result in reduced enzyme activity.

C677T MutationA1298C Mutation

Test instructions

instruction-print

Download and print your pathology form from your i-screen dashboard.

instruction-collection

Take your form to one of our affiliated collection centres to have your sample taken.

calendar-instructions instruction-kit

Results for this test available in 10-12 days and will be published in your online dashboard.

Ready. Set. Go!

Buy now for $69

Ready Set Go image

You may also be interested in

Vitamin B12 Test

1 biomarker included

Test vitamin B12 levels - essential for nerve function, red blood cells and energy production.

$65 AUD
Best Seller

Homocysteine Blood Test

1 biomarker included

Measure homocysteine levels — a biomarker commonly included in cardiovascular and wellness assessments.

$49 AUD

Histamine Test

1 biomarker included

Measure whole blood histamine levels — a marker relevant to methylation status.

$69 AUD

References