DNA Methylation – Buccal Swab

Beschrijving

Clinical Focus

The DNA Methylation Profile supports practitioners in identifying single-nucleotide polymorphisms (SNPs) that influence critical biochemical processes such as methionine metabolism, detoxification, hormone regulation, vitamin D function and more. Screening these genetic variations may improve clinical outcomes and allow personalised interventions in:

• Insulin resistance and metabolic syndrome
• Bone health and fracture risk
• Cancer risk modulation
• Cardiovascular disease risk
• Detoxification pathway efficiency
• Fertility or hormonal imbalance
• Mitochondrial function and neurotransmitter pathways
• Methylation status and epigenetic regulation

Even though SNPs themselves do not directly cause diseases, when paired with lifestyle factors, nutritional status and toxin exposure they may significantly affect health outcomes. This test empowers clinicians to better understand that interplay and guide targeted dietary, supplement and lifestyle protocols.

Analytes & Genetic Markers Include

Key SNPs analysed by the profile include (but are not limited to):

• ACAT-1, AHCY-1, AHCY-19
• BHMT-1/2/4/8
• CBS (A360A, C699T, N212N)
• COMT (61, H62H, V158M)
• MAO A – R297R
• MTHFR (C677T, A1298C)
• MTR – A2756G
• MTRR (H595Y, K350A, R415T, S257T)
• NOS – D298E
• SHMT – C1420T
• SUOX – S370S
• VDR (Fok1, Taq1)

These cover a range of pathways relevant to methylation, detox, hormone balance and metabolic regulation.

Sample & Collection

Sample Type: Buccal swab (cheek) — simple and non-invasive.
Collection Instructions:

• Use the provided swab kit to collect cheek cells as per the instructions.
• Ensure correct labelling of sample ID and collection date.
• Follow shipping instructions promptly after collection to ensure sample integrity.

Clinical Utility & Interpretation

• A “normal” result does not rule out dysfunction; SNPs reflect risk or potential rather than definitive pathology.
• Identified variants should be integrated with patient history, nutritional status, toxin exposure and functional testing for optimal interpretation.
• A functional follow-up test (e.g., plasma methylation profile) can assess actual metabolite levels and pathway function when genetic variants are present.
• The report will guide clinicians in targeted strategies—such as methyl-donor support, detoxification protocols, nutritional interventions and lifestyle modifications—to optimise methylation and metabolic resilience.

Why This Test Matters

Methylation is a fundamental biochemical process involved in gene regulation, detoxification, hormone synthesis, neurotransmitter functioning and DNA repair. Genetic variations in methylation pathway genes can influence how well the body handles toxins, hormones and metabolic stress. By identifying these SNPs, clinicians can tailor preventive or therapeutic interventions more precisely.

Notes for Practitioners

• This test is intended for use by healthcare practitioners only.
• The information provided by the test is not diagnostic by itself; it should be combined with clinical assessment and additional functional testing.
• Clinicians should interpret results in the context of the latest research and clinical guidelines.