Folate test

MTHFR enzyme mutation test (Folate)

Determination of the MTHFR enzyme 677C/T gene polymorphism

The MTHFR mutation is a genetic defect that causes the reduction/loss of activity of the enzyme methylene-tetrahydrofolate reductase. This enzyme is involved in the conversion of 5,10-methylene-tetrahydrofolate (THF) into 5-methyl-tetrahydrofolate (5-MTHF), a molecule that allows the remethylation of homocysteine into methionine, using vitamin B12 as a cofactor. The MTHFR mutation therefore plays a fundamental role in folate metabolism and is related to hyperhomocysteinemia (high levels of homocysteine in the blood). This phenomenon has been identified as a cardiovascular risk factor, predisposing to the development of atherosclerosis, thrombosis, coronary artery disease, stroke, migraine, and peripheral vessel diseases due to lipid deposits.

The relevant genotype for such risk factors is the homozygous genotype (TT), which occurs when both alleles of the gene are mutated, while the mutation in heterozygosity (CT) defines a healthy (not at risk) carrier condition. In the European population, the homozygous MTHFR mutation occurs in about 10-15% of individuals, in whom the activity of the enzyme is strongly reduced, with a consequent increase in homocysteine in the blood. In particular, in pregnant women, the presence of the MTHFR mutation in homozygosis represents a risk factor for both miscarriages and for the unborn child, for possible neural tube defects (eg spina bifida). Such risks can be strongly reduced by means of an adequate diet and intake of the correct food supplements (eg methyl-folate, 5-MTHF, instead of folic acid).

The test for the determination of the MTHFR mutation (folate test) is therefore addressed to:

  • Persons with altered plasmatic values of homocysteine (hyperhomocysteinemia)
  • Women in the first trimester of pregnancy (or planning/expecting pregnancy)
  • Family history of cardiovascular diseases
  • Individuals careful to their health and well-being, who want to prevent potential health problems (heart disease, hypertension, atherosclerosis, stroke, etc.).
  • Sportsmen who want to maximize their performance (the MTHFR mutation also causes sense of fatigue, weakness, shortness of breath, less stamina)

The MC Biotech test is fast and totally non-invasive. 
The genetic test is performed on a portable device, using the cells of the oral mucosa, by means of a buccal swab. The patient carries out a self-sampling of the biological specimen, rubbing a swab inside the oral cavity. The specimen must be taken with a clean mouth (it is recommended to drink a few sips of water before taking it), at least 20 minutes after eating or drinking. It’s a very simple, quick (<1 min) and completely painless procedure, also suitable for children, pregnant women, and hypersensitive patients.

Test execution
The test is simple and quick:

  • Pre-analytical phase: after sampling, the specialist inserts the patient’s buccal swab into a tube (P) provided in the kit (containing a DNA extraction buffer).
  • Reaction: after 5 min, a small specimen taken from the tube (P) is inserted with a pipette into the reaction tubes supplied in the kit. Then, the tubes are inserted in the housings of the MCBiotron portable device, following the simple instructions provided by the App.
  • Diagnostic result: after about one hour, the specialist receives a notification from the App about the availability of the diagnostic result of the test. The specialist does not have to interpret molecular diagnostic data or curves, and can immediately focus on the patient and the best therapeutic indication.

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