Description
The MTHFR (Methylenetetrahydrofolate Reductase) genetic test evaluates specific mutations in the MTHFR gene, which is important for processing folate (vitamin B9) and converting homocysteine into methionine. Mutations in this gene can affect methylation pathways, homocysteine metabolism, and overall cardiovascular and neurological health.
Purpose of the Test
- Identify genetic risk: Detects common MTHFR mutations such as C677T and A1298C.
- Assess elevated homocysteine risk: Mutations may lead to increased homocysteine, which is associated with cardiovascular disease, blood clots, and pregnancy complications.
- Guide supplementation and treatment: Individuals with mutations may benefit from specific forms of folate (like L-methylfolate) and B-vitamin support.
- Family planning and pregnancy considerations: Can inform risk management for neural tube defects and pregnancy-related complications.
How It Works
- A blood or saliva sample is collected.
- DNA is extracted and analyzed for the presence of MTHFR gene variants using molecular techniques such as PCR (polymerase chain reaction).
- Results indicate whether an individual is homozygous, heterozygous, or negative for each mutation.
Who Should Consider Testing
- Individuals with elevated homocysteine levels
- History of recurrent blood clots or cardiovascular issues
- Women planning pregnancy or with a history of pregnancy complications
- Patients with migraines, mood disorders, or unexplained neurological symptoms potentially linked to methylation issues
Test Details
- Fasting: Not required
This test provides valuable insight into genetic predispositions affecting folate metabolism and homocysteine regulation, helping guide personalized nutritional and medical interventions.
