MTHFR Gene Mutation

What is MTHFR gene mutation test?

An MTHFR gene mutation test analyzes a person's DNA to identify variations in the MTHFR gene. MTHFR gene affects the processing of folate and the breakdown of amino acid- homocysteine. This test can reveal common variations, such as the C677T and A1298C mutations, that may reduce the efficiency of the MTHFR enzyme.

Why consider MTHFR gene mutation test?

• To help explain persistently elevated homocysteine after ruling out nutritional deficiencies (folate, B12, B6), renal disease, hypothyroidism, and certain drugs.
• In suspected severe MTHFR deficiency/homocystinuria presenting in infancy or childhood with very high homocysteine and clinical features (lens dislocation, thrombosis, developmental issues), where definitive genotyping guides diagnosis and counseling.

Who should get this MTHFR GENE MUTATION Test?

• Individuals with markedly elevated homocysteine where results could inform rare inborn error evaluation or family counseling.
• Patients with a family history of known MTHFR pathogenic variants or homocystinuria, when targeted testing may be indicated.
• It is generally not recommended as a routine test for infertility, recurrent pregnancy loss, thrombophilia screening, cardiovascular risk assessment, or nonspecific symptoms, because clinical utility is limited and management does not usually change based on common MTHFR variants.

More Information about MTHFR GENE MUTATION Test

OTHER NAMES: MTHFR mutation analysis, MTHFR C677T and A1298C genotyping, MTHFR variant testing, MTHFR genetic test, MTHFR test

The MTHFR gene encodes the enzyme methylenetetrahydrofolate reductase, which converts 5,10‑methylenetetrahydrofolate to 5‑methyltetrahydrofolate, the key folate form used to remethylate homocysteine to methionine in one‑carbon metabolism.

Catalyzes an essential step in folate metabolism, generating 5‑methyltetrahydrofolate for homocysteine remethylation to methionine, which then forms S‑adenosyl‑methionine (SAM), the universal methyl donor for epigenetic and biosynthetic reactions.