Methylation Profile



'Methylation: A behind-the-scenes cellular wizard that needs to be optimised' | Dr Kara Fitzgerald

This Methylation Profile provides a real-time assessment of how your methylation gene variations are manifesting their potential to cause imbalances in your biochemistry.

This test measures the phenotypic ('physical symptoms caused by the interaction of your genes and your environment') expression of key methylation genetic variations (MTHFR, MS, CBS) by evaluating the plasma levels of methionine, cysteine, SAM, SAH, homocysteine and cystathionine, and provides the important "Methylation Index," a ratio of SAM to SAH.

Your test results can guide nutritional (food and supplements) support to improve or normalize methionine metabolism, and ameliorate or prevent the potential adverse consequences associated with inadequate methylation and transsulfuration capacity.


    • This test is not a home test
    • You will need to go to a lab to have 1 vile of blood drawn
    • Please contact me if you are considering doing this test to arrange the blood draw for you:
    • If you are in Johannesburg, this draw is best done at Lancet Lab, Bryanston Clinic

What is methylation?

Methylation is the process of a molecule known as a 'methyl group', made up of 1 carbon and 3 hydrogens atoms, being applying in countless critical functions in your body such as: thinking, repairing DNA, turning genes on and off, fighting infections and getting rid of environmental toxins to name a few. Methylation occurs probably billions of times every second in every cell in your body!

DNA methylation is an epigenetic mechanism used by cells to control gene expression. A number of mechanisms exist to control gene expression but DNA methylation is a commonly used epigenetic signalling tool that can fix genes in the “off” position.

More info

Methionine is first enzymatically converted to S-adenosylmethionine (SAM), the principal methyl donor for methylation of DNA, RNA, protein, phospholipids, creatinine and neurotransmitters. S-adenosylhomocysteine (SAH) is generated as a product of transmethylation and is hydrolyzed to homocysteine and adenosine through a reversible reaction. SAH is a potent inhibitor of methylation reactions. Efficient removal of adenosine and homocysteine is imperative to prevent accumulation of SAH. Homocysteine is normally removed or recycled by remethylation to methionine through a series of reactions that require 5-methyltetrahydrofolate, B12 and betaine to complete the normal methylation cycle. A low ratio of SAM to SAH is a sensitive indicator of under-methylation. Elevated plasma homocysteine is an independent risk factor for cardiovascular disease (CVD). Recent research suggests that elevated SAH may be an even better predictor of risk for CVD.

Transsulfuration: Methionine > Homocysteine > Cysteine

The methionine transsulfuration pathway occurs primarily in the liver and diverts homocysteine away from remethylation to methionine toward the synthesis of the conditionally essential amino acid cysteine. Homocysteine in the presence of serine and B6 is enzymatically converted to cystathionine and ultimately cysteine. Cysteine is the rate-limiting amino acid in the biosynthesis of quintessential glutathione (GSH). GSH is pivotal in the regulation of intracellular redox homeostasis, oxidative stress, immune function, DNA synthesis and repair, apoptosis and detoxification of metals and chemicals.

Normal methionine metabolism is absolutely critical for folate-dependent transmethylation and transsulfuration. Abnormal metabolism of methionine can be found in both genders at any age. It is usually associated with genetic or nutritional deficiencies, ageing and exposures to environmental toxins. For example, lead can impair methylation via inhibition of the enzyme methylene-tetrahydrofolate reductase (MTHFR).

What does methylation do?

  • Cell division: the synthesis and repair of DNA and RNA
  • Early development of the central nervous system (CNS) and neural tube defects
  • Immune cell differentiation (where basic immune cells change into the different immune cells)
  • Neurotransmitter biosynthesis and metabolism. Neurotransmitters such as dopamine, norepinephrine, epinephrine, acetylcholine, melatonin. 
  • Histamine clearance
  • Detoxification and hormone detoxification
  • Production of cellular energy
  • Phospholipid synthesis
  • Myelination of peripheral nerves
  • Epigenetic regulation of gene expression especially gene 'silencing' - meaning: methylation can help to 'turn off' the expression of many chronic lifestyle-related illnesses

Anyone with the following conditions: 

  • Abnormal neurotransmitter metabolism and psychiatric disorders such as schizophrenia and bipolar disorder
  • Autism
  • Birth defects
  • Cancer
  • Cardiovascular disease
  • Congenital heart disease 
  • Detoxification impairment
  • Down Syndrome
  • Dysregulation of nitric acid homeostasis
  • General health and longevity
  • Genetic Disorders
  • Global under-methylation, synthesis and repair of DNA
  • Immune dysregulation/autoimmunity
  • Impaired endogenous detoxification processes 
  • Increased risk for Down syndrome
  • Neurodegenerative diseases
  • Nutritional deficiencies
  • Oxidative stress
  • Psychiatric disorders

Tests for

How your methylation pathways are functioning 

Test analytes

Cystathionine; plasma
Cysteine; plasma
Homocysteine; plasma
Methionine; plasma
S-adenosylhomocysteine; plasma
S-adenosylmethionine; plasma
SAM, SAH ratio

Test resource guide

Test sample report

Test sample type

  • Blood plasma
  • This test requires that you go to a lab and ask them to draw a vile of blood and spin it down. 
  • Please contact me if you would like to do this test and we arrange the blood draw:

Test instructions

Processing time

Around 2 weeks