DNA Methylation Pathway Profile – Buccal Swab

Description

DNA Methylation Pathway Profile

A genetic test (using cells from a cheek swab) analyzing key genes involved in the methylation pathway and folate/B12 metabolism.

What does this test measure?

This typically includes variants like:

• MTHFR (e.g. C677T, A1298C)
• MTR
• MTRR
• COMT
• Other genes regulating homocysteine and methyl group processing

The goal is to identify genetic predispositions that could affect homocysteine levels and overall methylation efficiency. For example, a common MTHFR mutation can lead to elevated homocysteine and lower active folate, increasing risk for cardiovascular issues or miscarriage. The test informs personalized nutrition – those with certain polymorphisms might benefit from specific forms of vitamins (like L-methylfolate instead of folic acid, or B12 as methylcobalamin) or higher doses.

Who is this test most suitable for?

• Individuals with diets low in B vitamins
• Those considering high-dose supplements (want to know if genetically needed)
• People with family heart disease or stroke at young age
• Patients using lots of folic acid fortification who want to know if they process it properly

Clinical Use

It’s often ordered by functional medicine practitioners for patients with high homocysteine or strong family history of cardiovascular disease, or conditions like chronic fatigue or mental health issues that might be tied to methylation. By knowing one’s genetics, interventions can be tailored to optimize the methylation cycle (supporting detoxification, neurotransmitter production, etc.).