MTHFR Gene Polymorphism

There are two predominant MTHFR polymorphisms, 677C>T and 1298A>C. In the general population, 60–70% of individuals will have at least one of these variants, 8.5% will be homozygous for 677C>T or 1298A>C, and 2.25% will be compound heterozygous. 1

MTHFR (methylenetetrahydrofolate reductase) gene polymorphism refers to variations in the DNA sequence of the MTHFR gene. The MTHFR gene codes for an enzyme called methylenetetrahydrofolate reductase, which plays a vital role in the metabolism of folate, a B vitamin essential for numerous biochemical processes in the body.

Variations in the MTHFR gene can result in reduced enzyme activity, affecting the body's ability to convert folate into its active form. This can lead to elevated levels of homocysteine, an amino acid, and lower levels of active folate.

The impact of MTHFR gene polymorphism is still a subject of ongoing research and debate. Some studies have suggested potential associations between certain MTHFR variants and an increased risk of various health conditions, such as cardiovascular diseases, blood clotting disorders, neural tube defects in pregnancies, and complications related to methotrexate therapy. However, it is important to note that the clinical significance of MTHFR gene polymorphisms can vary among individuals. While some may experience no apparent health consequences, others may be more susceptible to the effects of reduced folate metabolism.

When should you get tested?

  • If there is a known family history of MTHFR gene mutations or if a family member has experienced complications related to MTHFR gene variants
  • Individuals or couples experiencing difficulties with fertility, recurrent pregnancy loss, or complications during pregnancy. Certain MTHFR gene variants have been associated with an increased risk of blood clotting disorders and may impact reproductive outcomes.
  • Individuals who have a personal history of blood clotting disorders, cardiovascular diseases, or certain neurological conditions may be recommended for MTHFR testing.
  • MTHFR testing may be useful in certain cases to determine an individual's response to specific medications, such as methotrexate, which is commonly used in the treatment of certain cancers, autoimmune diseases, and ectopic pregnancies

Test Specifications

TechniqueVariant typesTAT Sample requirements
Sanger sequencing Mutation 3 - 4 weeks 2 ml EDTA Blood / 2 ug DNA


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