MTHFR Mutation Testing (C677T & A1298C Variants)

The MTHFR (Methylenetetrahydrofolate Reductase) gene provides instructions for making an enzyme that plays a critical role in processing amino acids, specifically converting homocysteine to methionine. Mutations in the MTHFR gene (most commonly C677T and A1298C) can reduce enzyme activity, leading to elevated plasma homocysteine levels (hyperhomocysteinemia) and altered folate metabolism.

Indications: Why test MTHFR?

Evaluation of unexplained elevated serum homocysteine levels.
History of recurrent pregnancy loss or unexplained vascular thrombosis (blood clots).
Assessment of cardiovascular disease risk in patients with family history of early-onset thrombosis.
Personalizing folate/folic acid supplementation therapy (e.g., L-methylfolate vs. synthetic folic acid).

When should I take the test? Recommended if you have a personal or family history of blood clots, recurrent pregnancy loss, high homocysteine levels, or are undergoing pre-conception planning.

Do I need to fast or prepare? No fasting required. You may continue regular medications unless advised otherwise by your physician.

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Test Summary Specs

Turnaround Time	5 to 7 Business Days
Estimated Cost	KES 15,000
Methodology	Targeted PCR / Sanger / NGS Variant Panel
Sample Type	5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use	Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment