Description

In-Depth Functional Testing for Methylation Pathway Health

Methylation is one of the most fundamental biochemical processes in the body—affecting everything from DNA repair and detoxification to neurotransmitter production and cardiovascular health. Disruptions in methylation pathways have been linked to mood disorders, fatigue, infertility, poor detox capacity, and chronic disease.

The Methylation Profile Test is a functional, precision-focused assessment that measures key metabolites in the methionine cycle to determine how efficiently your body is methylating—especially in the context of genetic variants like MTHFR, COMT, CBS, and MTR.

What is Methylation?

Methylation is the process of transferring a methyl group (CH₃) to other molecules. These transfers regulate a wide range of critical processes, including:

  • Detoxification (Phase II liver detox pathways)
  • DNA expression and repair
  • Neurotransmitter synthesis (dopamine, serotonin, norepinephrine)
  • Immune system function
  • Hormone metabolism
  • Energy production

Methylation is powered by nutrients such as B12, folate (especially methylfolate), B6, choline, and betaine. Genetic mutations or environmental stress can impair this process, leading to wide-ranging symptoms and chronic health challenges.

What This Test Measures

This test evaluates critical methylation cycle intermediates in the blood to assess functional capacity—not just genetic potential.

Biomarkers Included:

  • Methionine – The starting point of the methylation cycle; a sulfur-containing essential amino acid. Low levels may indicate poor dietary intake, impaired conversion, or high demand.
  • Homocysteine – A central biomarker in methylation and cardiovascular health. Elevated homocysteine is linked to increased risk of heart disease, Alzheimer’s, and poor detoxification. It can also reflect deficiencies in folate, B6, or B12.
  • Cystathionine – An intermediate in the transsulfuration pathway that converts homocysteine into cysteine. High or low levels may suggest enzyme pathway blockages or cofactor deficiency.
  • Cysteine – Precursor to glutathione (the body’s master antioxidant). Imbalances here may impact detoxification and oxidative stress levels.
  • SAMe (S-adenosylmethionine) – The body’s primary methyl donor. Low levels indicate reduced methylation capacity and are often seen in depression, liver dysfunction, or B12/folate deficiency.
  • SAH (S-adenosylhomocysteine) – The product of methyl group donation. High SAH levels can inhibit methylation and signal metabolic bottlenecks.
  • SAMe/SAH Ratio (Methylation Index) – This is the most clinically significant output of the panel. A low ratio suggests impaired methylation, regardless of individual metabolite levels.

Why This Test Matters

Unlike basic genetic testing for MTHFR or COMT, this test measures real-time metabolic activity, helping you understand how your body is functionally performing.

Poor methylation has been associated with:

  • Chronic fatigue or burnout
  • Brain fog or memory issues
  • Mood disorders (anxiety, depression, irritability)
  • Infertility and hormone imbalance
  • Poor liver detox and sensitivity to toxins
  • Sleep disorders and high stress
  • Cardiovascular disease
  • Autism spectrum disorders
  • Autoimmune conditions

This test allows practitioners to identify where the cycle is blocked and implement targeted nutritional or therapeutic interventions to support proper function.

Ideal For:

  • Patients with known or suspected MTHFR, COMT, CBS, or MTR SNPs
  • Individuals on long-term medications affecting methylation (e.g., methotrexate, birth control, antacids)
  • People with mood or cognitive symptoms unexplained by standard labs
  • Preconception screening (methylation is essential for fetal development)
  • Individuals undergoing detoxification or functional wellness programs
  • Functional medicine practitioners seeking more precise biochemical insight

Test Information

  • Sample Type: Blood (plasma)
  • Fasting Required: Yes – 8 to 12 hours for accurate plasma levels

Benefits of This Test

  • Goes beyond genetics — looks at actual metabolic function
  • Guides targeted supplementation — such as methylated B12, folate, or SAMe
  • Supports treatment plans for fatigue, mood, detox, and inflammation
  • Used in both general wellness and advanced clinical care