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MTHFR screen

Test category:

Familial - Haematological

Use of test


Methylenetetrahydrofolate reductase (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.


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.

Ethical considerations:

The patient should be advised of the limited evidence for utility of this investigation.


Analysis of the MTHFR gene for specific variants.

Requesting the test


This test can be requested by any medical practitioner.

Sample required:

4 mL blood in EDTA. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).

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

>Link to Sonic Healthcare collection centres

Turnaround time:

5 business days.


This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.


The Medicare details, including descriptor and schedule fee, are listed under MBS item 73308

Click here for our billing policy.