Folate Metabolism Test

The DNA test for folate metabolism evaluates your body’s ability to metabolise folic acid and other forms of folate. Specifically, this test analyses the MTHFR C677T gene (Methylenetetrahydrofolate Reductase), which codes for an enzyme involved in converting folic acid into its active form, called 5-Methyltetrahydrofolate (5-MTHF).

The active form of folate is essential for DNA synthesis, cell repair, and neurotransmitter production. A reduced ability to metabolise folates can affect various aspects of health, such as the risk of neural tube defects during pregnancy, cardiovascular issues, and other conditions linked to elevated homocysteine levels in the blood.

Folate is a form of vitamin B9, crucial for many functions in our body. It is naturally found in foods like leafy green vegetables (e.g., spinach, broccoli, asparagus), legumes, fruits (such as oranges and avocados), and whole grains. Folate is important for DNA production, cell growth and division, and red blood cell formation, making it essential during pregnancy to help prevent issues with fetal development.

Folic acid, on the other hand, is the synthetic version of vitamin B9, used in supplements and fortified foods.

What are the benefits of the test?

Folate metabolism is how our bodies utilise vitamin B9 to perform important functions such as:

✔ Absorbtion
When we eat foods rich in folates (spinach, broccoli, legumes etc.) they are absorbed in the small intestine.

✔ Conversion
Once the foods are absorbed the folates are converted into an active form called tetrahydrofolate (THF), which the body can use for metabolism and synthesising amino acids.

✔ DNA Synthesis
THF helps produce DNA, essential for cell growth and division.

✔ Red Blood Cell Formation
It also helps create red blood cells, which carry oxygen through the blood.

✔ Methylation
Folates help regulate gene function by turning them on or off, ensuring proper cell function.

A deficiency of folate in the body can lead to issues such as anemia (a shortage of healthy red blood cells) and, in pregnant individuals, an increased risk of fetal malformations.

The MTHFR C677T variant is a genetic mutation that can reduce the efficiency of folate metabolism. Individuals with this variant may struggle to convert folic acid (the synthetic form of vitamin B9) and dietary folates into 5-MTHF, the biologically active form the body uses. This inefficiency can result in higher homocysteine levels, which are associated with cardiovascular risks, and can impair the body’s ability to properly metabolize folic acid.