MTHFR Gene Test

The MTHFR gene, technically referred to as Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine. Mutations of the MTHFR gene may cause elevated blood levels of homocysteine.

The most common mutation in the MTHFR gene is called C677T. Individuals with two copies of this mutation, i.e. one inherited from their mother and one from their father, are called homozygotes. This occurs in 5-10% of the population and these individuals are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate.

A second mutation in the MTHFR gene, called A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation.

High blood levels of homocysteine are recognised as a risk factor for:

  • Coronary artery disease
  • Venous thrombosis & stroke
  • Type 2 diabetes
  • Obesity

High homocysteine levels in the blood have also been associated with:

  • Neural tube defects
  • Recurrent miscarriage
  • Autism spectrum disorders
  • Stillbirths
  • Depression & other mood disorders

The main causes of high homocysteine levels are folate deficiency, insufficient B12 and genetic mutations in the MTHFR gene.

Test Kit/Specimen Collection

Buccal swab – Once the practitioner has given the patient their request form, the patient can order their test kit online at

Blood - Once the practitioner has given the patient their request form, the patient takes it to their nearest Clinical Labs pathology collection centre. Please call 1300 55 44 80 or visit for a list of collection centres. Note that the blood specimen can be taken at any time of day and fasting is not required beforehand.

Specimen Requirements

This test can be performed on either a blood specimen or buccal (cheek cell) swab.

Patient Preparation

The patient does not need to fast for this test if a blood sample is required. However, swab specimens should be collected in the morning before eating or drinking.

Turnaround Time

The standard turnaround time for this test is 10-14 business days.



Additional $20.00 postage & handling OR collection fee applies to this test.


Blood: No prepayment is required. Patient will be billed once the testing is completed.

Swab: Prepayment is required when ordering kit.



Test Results

Patient results are delivered to the referring practitioner via electronic download unless requested otherwise. Results can also be issued via hardcopy or fax.

Companion Tests:

  • Homocysteine
  • Red Cell Folate
  • Vitamin B12
  • Baseline Hormone Profile

A number of BeFunctional Labs pathology tests may be useful in conjunction with the MTHFR gene test.  For example, given that folate deficiency is the major cause of high homocysteine levels, it is imperative to test Red Cell Folate to determine the level of insufficiency.

It is also recommended to test the blood levels of homocysteine and vitamin B12 which also plays an important role in the methylation cycle that converts methionine to homocysteine and eliminates it from the body.

The results of the MTHFR gene test in conjunction with the patient history and presenting complaints may also indicate the need for further testing to assess the whole picture. This may include the Baseline Hormone Profile, for example, in female patients who presents with depression and/or other mood disorders, obesity and personal or family history of cardiovascular disorders or fertility issues.