MTHFR C677T and A1298C – Folate Metabolism

Product detailed description

The MTHFR C677T and A1298C genetic test identifies inherited variants in the MTHFR gene, which plays an important role in folate (vitamin B9) and homocysteine metabolism. Folate is essential for DNA synthesis, normal cell division, and red blood cell production. Homocysteine is an amino acid whose elevated levels may be associated with vitamin deficiencies and other health factors.

The MTHFR gene encodes the enzyme methylenetetrahydrofolate reductase, which helps convert folate into a biologically active form required for the conversion of homocysteine into methionine. Certain genetic variants, particularly MTHFR C677T and A1298C, may affect enzyme activity and influence folate metabolism.

MTHFR genetic testing provides insights into inherited genetic factors associated with vitamin B9 processing and homocysteine metabolism. The results may help improve understanding of individual differences in these metabolic pathways.

What does the test detect?

• The presence of the MTHFR C677T genetic variant (rs1801133).

• The presence of the MTHFR A1298C genetic variant (rs1801131).

• Whether each variant is present in one or both copies of the gene.

• Genetic factors associated with MTHFR enzyme activity and folate and homocysteine metabolism.

Carrying these variants does not necessarily indicate folate deficiency or elevated homocysteine levels. The genetic test does not replace direct laboratory measurements of folate, vitamin B12, or homocysteine and cannot independently determine the risk of developing a specific disease.