Our Tests

MTHFR Screen

Also known as: MTHFR

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MTHFR testing is frequently ordered by clinicians because of the postulated association of variants in this gene with disorders such as thrombosis, coronary artery disease, and recurrent miscarriage.

Clinical Utility

Recent reviews of the many studies of MTHFR have not demonstrated a significant association with recurrent thrombosis, coronary artery disease, miscarriage, or overall cancer risk. Many professional societies do not currently recommend testing this gene as part of the management of these disorders.  The result of this test should not be used as the basis for significant clinical decisions.



Test Method

Analysis of the MTHFR gene for specific variants.

Test Ordering

This test can be requested by any medical practitioner.

5 mL blood in EDTA. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.

We also recommend that the patient or another adult check the labelling of request forms and sample tubes.



This test may have a rebate for all or part of the cost.

Medicare Rebate

This test has a Medicare rebate of $31.00, subject to the requirements of the Medicare descriptor being met. The MBS item number is 73308.

Turnaround Time

5 working days.

Other Information

ACMG Practice Guidelines