Folate Metabolism Test

The Folate Metabolism Test analyses the MTHFR C677T gene and helps determine if a person is at higher risk for issues like elevated homocysteine, which is linked to a greater risk of cardiovascular diseases, and may have trouble properly metabolizing folic acid.

Only £45 with results in 5-7 working days

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.

Benefits of a DNA Test

Folate metabolism is how our body uses vitamin B9 to perform important functions:

  • Absorption: When we eat foods rich in folates, like leafy greens, they are absorbed in the small intestine.
  • Conversion: Once absorbed, folates are converted into an active form called tetrahydrofolate (THF), which the body can use.
  • 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.
  • Amino Acid Metabolism: THF contributes to converting certain amino acids, the building blocks of proteins.
  • Methylation: Folates help regulate gene function by turning them on or off, ensuring proper cell function.

If there is not enough folate in the body, problems like anemia (low healthy red blood cells) or, during pregnancy, fetal malformations may occur.

The MTHFR C677T variant is a genetic mutation that can make folate metabolism less efficient. People with this variant may have difficulty converting folic acid (the synthetic version of vitamin B9) and dietary folates into 5-MTHF, the active form the body uses. This can increase the risk of elevated homocysteine levels, linked to heart problems, and negatively affect the ability to metabolise folic acid.

The DNA Test Process is Simple

A DNA test for folate metabolism does not require a blood sample. Our test is conducted using buccal swabs provided in our at-home sample collection kit. Collecting the sample is easy and quick, provided you carefully follow the supplied instructions.

You can view the sample collection instructions on our page “How to Collect DNA Samples.”

Option to Analyse the MTHFR-2 Gene for Homocysteine Metabolism

Folate metabolism is inversely correlated with homocysteine levels.

This means that when folate metabolism is working properly and folate (vitamin B9) levels are adequate, homocysteine levels in the blood tend to be lower. Homocysteine is an amino acid that, when elevated, can increase the risk of cardiovascular diseases.

Folates are critical for the proper metabolism of homocysteine. When folate levels are insufficient, homocysteine is not properly converted into other substances (like methionine), causing its accumulation in the blood. This process is also significantly influenced by vitamin B12 and B6, which contribute to the homocysteine conversion cycle.

Adequate folate intake helps prevent hyperhomocysteinemia, reducing the risk of cardiovascular and neurological problems.

The MTHFR gene (Methylenetetrahydrofolate Reductase) is crucial for folate metabolism and the regulation of homocysteine. In addition to the MTHFR C677T variant, we can analyse the MTHFR A1298C variant (also known as MTHFR-2), which may affect how efficiently the MTHFR enzyme performs its role.

MTHFR C677T is the most studied variant and can significantly reduce MTHFR enzyme activity. When both copies of the gene (one inherited from the mother and one from the father) are mutated (a condition called homozygosity), the enzyme’s efficiency can drop by up to 30%. This reduces the body’s ability to convert folates into their active form, methylfolate, leading to elevated homocysteine levels.

The MTHFR A1298C variant (MTHFR-2) can also affect folate metabolism, though to a lesser extent than C677T. However, when both variants (C677T and A1298C) are present together, the overall impact can be more significant.

The presence of both mutations can further impair the regulation of homocysteine, increasing the risk of elevated levels of this amino acid.

If you are interested in also testing for the MTHFR-2 gene, it can be analysed for an additional £40.

The MTHFR A1298C variant (MTHFR-2) can also impact skin health. It may increase the predisposition to conditions such as:

  • Dermatitis
  • Psoriasis
  • Rosacea

These conditions may be linked to the body’s reduced ability to eliminate toxins and manage oxidative stress.

Disclaimer: The test results are for informational and/or educational purposes only and should NOT be used to make medical, health, or other decisions without consulting a physician. Always talk to your doctor and seek professional help before taking any action. The test does not replace a visit to a doctor or the advice or services of a qualified specialist.

Other DNA Tests

Genetic DNA testing will help you learn whether you have an elevated risk of inheriting a disease and make informed decisions to improve your quality of life. Learn more about Genetic Testing here.

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