MTHFR Gene Test (Folate deficiency & High homocysteine levels)
A high blood level of an amino acid called homocysteine is recognized as a risk factor for coronary artery disease, abnormal blood clotting in the veins (venous thrombosis) and stroke.
High homocysteine levels in the blood have also been associated with neural tube defects, stillbirths and recurrent pregnancy loss. The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.
The MTHFR gene, technically called Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise or breakdown homocysteine. The most common mutation in MTHFR is called C677T. 5 - 10% of people have two copies of this mutation (i.e. one inherited from their mother and one from their father). These people are more likely to develop high blood levels of homocysteine, particularly when their diets are low in folate.
A second mutation in the MTHFR gene, called A1298C, may also cause high levels of homocysteine when found together with the C677T mutation.
MTHFR gene mutations found in individuals with other inherited clotting genes (such as Factor V Leiden) have a dramatically increased risk of venous thrombosis.
| Medicare Rebate available: | Yes |
| Specimen Type required: | Blood or mouth swab |
| Results available from your Doctor: | 5 - 7 days |