Homocysteine Mutation (MTHFR, Α1298C)

This test looks for a common genetic variant known as MTHFR A1298C. The MTHFR gene provides instructions for an enzyme that helps the body process folate (vitamin B9) and regulate homocysteine, an amino acid in the blood. The A1298C variant is one of the changes in this gene that can affect how the enzyme works. It is often assessed alongside the other common MTHFR variant, C677T, as the combination of the two can be more relevant than either alone.

What it looks at

• Folate processing: how efficiently your body handles folate
• Homocysteine regulation: MTHFR variants can be one factor influencing homocysteine levels, particularly when combined with the C677T variant

Understanding the results

You inherit two copies of the MTHFR gene, one from each parent. This test can identify:

• No variant detected: you do not carry the A1298C variant
• One copy (heterozygous): you carry one copy
• Two copies (homozygous): you carry two copies

On its own, the A1298C variant is generally considered to have less effect on enzyme activity than C677T. Its significance is usually considered greatest when it is inherited together with a C677T variant, so results are most informative when both variants are known.

Interpreting this test

MTHFR variants are very common, and many people who carry them have normal homocysteine levels and no related health problems. Where homocysteine is the concern, measuring the homocysteine level directly is often more informative than the genetic test. Your referring clinician will interpret your result alongside your homocysteine level, any C677T result, your symptoms, and overall health, and advise on whether any further testing or action is helpful.

Why it matters

This test provides insight into how your body processes folate and regulates homocysteine. It is most meaningful when considered alongside the C677T variant and an actual homocysteine measurement, and your referring clinician will explain what your result means for you.

Professional clinical biomarker screening.

Referral required from your GP or specialist.