Also known as: MTHFR« Back to test list
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.
Analysis of the MTHFR gene for specific variants.
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.