DNA Methylation Test

About this test – DNA Methylation Test

Key benefits

• 31 genes: Broad genetic overview of methylation and related processes.

• More than the methylation cycle itself: Also includes genes related to nutrient handling and cellular support processes.

• Personal insight: Understand genetic predispositions related to folate, B vitamins, homocysteine and methyl donors.

• Simple at-home test: Taken using a saliva sample at home.

• Digital results: Receive a personalised report with genetic results and recommendations.

What the test measures

The test analyses 31 genes across three main areas.

Folate and vitamin B pathways
Genes related to how the body transports, converts and uses folate and vitamin B12. These processes support functions including DNA synthesis, cell renewal and homocysteine metabolism.

Methylation, homocysteine and transsulfuration
Genes related to homocysteine, methionine, choline, betaine, methyl donor activity and transsulfuration. These processes are central to methylation and the balance between different compounds within the system.

Cellular protection, detoxification and support pathways
Genes related to oxidative stress, DNA repair, cellular maintenance and other supporting processes that may influence the biological context surrounding methylation.

Why does this test provide a broader overview?

Methylation does not function in isolation. The process is influenced by how the body absorbs and uses nutrients, repairs DNA, regulates cells and handles compounds such as homocysteine and methyl donors.

The DNA Methylation Test therefore includes several genes that sit around and support the methylation system, not only genes that are directly involved in the main methylation pathways.

This provides a broader genetic picture of the factors that may influence methylation-related processes.

What is the difference between DNA Methylation Test and DNA Methylation Test Plus?

DNA Methylation Test analyses 31 genes and provides a broad genetic overview of methylation and related processes, including folate and B-vitamin handling, homocysteine balance, DNA repair and cellular support processes.

DNA Methylation Test Plus analyses fewer genes overall, but goes deeper into the methylation system itself. The 23 genes are organised directly into the folate cycle, methionine cycle and transsulfuration pathway, allowing the report to show how different steps within these pathways are connected.

In short:
DNA Methylation Test = greater genetic breadth around the methylation system.
DNA Methylation Test Plus = greater depth within the core methylation pathways.

How it works

1. Order the test
Order the DNA Methylation Test online.

2. Take your sample
Collect a saliva sample at home using the provided test kit.

3. Return your sample
Send your sample to the laboratory using the included return materials.

4. Receive your results
Access your digital DNA report within 3–5 weeks after the laboratory receives your sample.

Sample collection

The test is completed at home using a simple saliva sample. The sample is collected according to the instructions and then sent to the laboratory for DNA analysis.

About the results report

The report provides an overview of your genetic results and explains how they may be related to methylation, folate and B-vitamin pathways, homocysteine and related cellular functions.

You also receive personalised recommendations related to nutrition, nutrients and lifestyle. The report is available in English.

ISO-certified laboratory and analysis

Your sample is analysed at an ISO-certified laboratory using the Illumina GSA Microarray, an SNP genotyping technology used to analyse selected genetic variants related to methylation and associated biological processes.

Biomarkers included – DNA Methylation Test

• MTR: Folate and vitamin B pathways — MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a critical enzyme involved in the remethylation pathway of homocysteine metabolism. It catalyzes the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, producing methionine and tetrahydrofolate (THF). Methionine is a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for
• TCN2: Folate and vitamin B pathways — The TCN2 gene encodes transcobalamin II, a protein responsible for transporting vitamin B12 (cobalamin) from the bloodstream into cells. Once vitamin B12 is absorbed in the gut, it must bind to transcobalamin to be delivered to tissues where it is used for DNA synthesis, red blood cell formation, and neurological function. Genetic variations in TCN2 can reduce the efficiency of B12 transport, pote
• DHFR: Folate and vitamin B pathways — DHFR (Dihydrofolate Reductase) is an enzyme that plays a key role in DNA synthesis and repair. It catalyzes the conversion of dihydrofolate to tetrahydrofolate, a necessary cofactor for producing purines, thymidylate, and certain amino acids. This process is essential for cell growth and division, making DHFR a critical target in cancer treatment, where inhibitors like methotrexate block its activ
• FOLH1: Folate and vitamin B pathways — FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is a gene involved in folate metabolism and the activation of folate for DNA synthesis and repair. It plays a key role in cell growth and division. FOLH1 is notably expressed in prostate cancer cells, making it a valuable target for cancer diagnosis and therapy.
• MMAB: Folate and vitamin B pathways — MMAB, also known as vitamin B12-binding protein or transcobalamin I, is a protein that binds to vitamin B12 in the blood. It plays a crucial role in the transport and absorption of vitamin B12, which is essential for red blood cell formation, neurological function, and DNA synthesis.
• MTHFR: Folate and vitamin B pathways — MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is an enzyme that plays a central role in folate metabolism and the regulation of homocysteine levels. It converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, enabling the remethylation of homocysteine to methionine — a precursor to S-adenosylmethionine (SAM), the body’s primary methyl donor. Variants in the MTHFR gene, such as C
• TCN1: Folate and vitamin B pathways — TCN1 encodes the protein haptocorrin, also known as transcobalamin I, which binds vitamin B12 (cobalamin) in the saliva and protects it from degradation in the acidic environment of the stomach. This initial binding allows B12 to reach the small intestine, where it is then transferred to intrinsic factor for absorption. Variants in the TCN1 gene may affect the stability or availability of B12 in t
• SHMT1: Folate and vitamin B pathways — SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 is an enzyme that catalyzes the conversion of serine and tetrahydrofolate into glycine and methylenetetrahydrofolate. This process is essential for nucleotide synthesis and methylation reactions, which support DNA replication and repair. SHMT1 plays a key role in cell growth and genetic stability, and its activity in folate metabolism is linked to c
• SLC19A1: Folate and vitamin B pathways — The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), a key transporter responsible for moving folate and folate derivatives into cells. This transport system is vital for cellular uptake of folate, which is necessary for DNA synthesis, repair, methylation processes, and red blood cell formation. Variants in this gene may impair folate transport, potentially leading to reduced intracellula
• MTHFD1L: Folate and vitamin B pathways — The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in the conversion of formate to 10-formyl-THF. This process supports purine synthesis and methylation reactions, which are essential for DNA and RNA production and cellular repair. Genetic variations in MTHFD1L can affect mitochondrial folate metabolism and have been associated with
• MTRR: Folate and vitamin B pathways — MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a critical role in regenerating methylcobalamin, supporting the continuous function of MTR in homocysteine metabolism. It is essential for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are linked to homocystinuria, which can contribute to developmental and neurological complications. Understanding
• MTHFD1: Folate and vitamin B pathways — MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used for the synthesis of DNA, RNA, and amino acids. It plays a vital role in one-carbon metabolism, influencing cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disr
• BHMT: Methylation and homocysteine balance — BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT is an enzyme that reflects the body’s ability to metabolize homocysteine, a process important for cardiovascular and neurological health. BHMT catalyzes the conversion of homocysteine to methionine using betaine as a methyl donor. Dysregulation of BHMT can lead to elevated homocysteine levels, which are associated with cardiovascular disease an
• GNMT: Methylation and homocysteine balance — GNMT (Glycine N-Methyltransferase) is an important enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine accumulation and supporting liver health. Dysfunction of GNMT is associated with liver conditions such as fatty liver disease and liver cancer. Ongoing research highl
• PEMT: Methylation and homocysteine balance — PEMT (Phosphatidylethanolamine N-Methyltransferase): PEMT is an enzyme that converts phosphatidylethanolamine to phosphatidylcholine in the liver, a key step for maintaining cell membrane structure and enabling VLDL secretion. Its activity affects liver function, fat metabolism, and choline needs, with dysregulation linked to liver and cardiovascular disease risk.
• BHMT2: Methylation and homocysteine balance — BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) is a gene involved in homocysteine metabolism, working similarly to its counterpart, BHMT. It helps convert homocysteine to methionine, a process important for cardiovascular and neurological health. Although less studied than BHMT, BHMT2 influences homocysteine levels in the body, which may affect heart function and neurological conditions. Under
• CHDH: Methylation and homocysteine balance — CHDH (Choline Dehydrogenase) is an important enzyme involved in choline metabolism, converting choline into betaine. This conversion supports the production of acetylcholine, a key neurotransmitter, and helps regulate homocysteine levels, which is important for cardiovascular health. CHDH activity influences choline availability, affecting liver function, brain development, and nervous system heal
• MAT1A: Methylation and homocysteine balance — MAT1A (Methionine Adenosyltransferase I, Alpha) is an enzyme that produces S-adenosylmethionine (SAMe), the body’s primary methyl donor for key metabolic processes. It plays a central role in methionine metabolism, influencing gene regulation, cell growth, and detoxification. Reduced MAT1A activity is linked to liver disorders such as cirrhosis and hepatocellular carcinoma.
• TRDMT1: Methylation and homocysteine balance — TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyzes the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulati
• COMT: Methylation and homocysteine balance — COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, including dopamine, epinephrine, and norepinephrine. It is important for regulating neurotransmitter levels in the brain and is linked to psychiatric disorders such as schizophrenia. COMT also contributes to the body’s pain response and has been studied in relation to pain sensitivity
• AHCY: Methylation and homocysteine balance — AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a key role in converting S-adenosylhomocysteine to homocysteine, an essential step in the body's methylation processes and detoxification.
• OGG1: Supporting detoxification and cellular pathways — OGG1, or 8-oxoguanine glycosylase, is a crucial enzyme involved in repairing DNA damage. It specifically removes oxidized bases from DNA, which are a common type of damage caused by reactive oxygen species. Maintaining proper DNA integrity through OGG1 activity is essential for preventing mutations and cellular dysfunction.
• PRXL2A: Supporting detoxification and cellular pathways — PRXL2A (Peroxiredoxin-like 2A): PRXL2A is a gene that encodes a protein involved in reducing peroxide levels within cells, helping protect them from oxidative stress. This enzyme plays a role in cell survival, proliferation, and response to stress. Research on PRXL2A continues to explore its contributions to aging, cancer, and diseases linked to oxidative damage.
• NQO1: Supporting detoxification and cellular pathways — NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been associated with cancer risk and increased sensitivity to certain toxins, highlighting its rol
• ENOSF1: Supporting detoxification and cellular pathways — ENOSF1 (Enolase Superfamily Member 1): ENOSF1 is a protein involved in the cellular response to vitamin B2 (riboflavin) availability. It plays a role in the metabolism of cancer cells, especially in how they adapt to changes in nutrient conditions. Changes in ENOSF1 expression have been studied in relation to tumor metabolism, indicating a possible role in cancer progression and the development of
• CHMP4B: Supporting detoxification and cellular pathways — CHMP4B, or Charged Multivesicular Body Protein 4B, is a protein that plays a crucial role in the formation of multivesicular bodies (MVBs). MVBs are involved in intracellular trafficking and the degradation of cellular components, and alterations in CHMP4B expression have been linked to various cellular processes, including autophagy and endosomal sorting.
• ITCH: Supporting detoxification and cellular pathways — ITCH, or Itch receptor, is a protein that acts as an E3 ubiquitin ligase, playing a crucial role in regulating cellular processes and immune responses. Its dysregulation has been linked to various inflammatory conditions and autoimmune diseases.
• RRP1: Supporting detoxification and cellular pathways — RRP1, also known as Ribosome Ribosomal Protein L1, is a structural component of ribosomes, the cellular machinery responsible for protein synthesis. Its presence and quantity can be indicative of cellular activity and stress, and its dysregulation has been implicated in various diseases, including cancer.
• CPS1: Supporting detoxification and cellular pathways — CPS1 (Carbamoyl-phosphate synthase 1): CPS1 is a key enzyme in the urea cycle that plays a vital role in detoxifying ammonia in the body. It catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, starting the process of urea synthesis in the liver. The urea cycle is essential for removing excess nitrogen produced from protein and amino acid breakdown, preventing toxic ammonia
• MS4A6A: Supporting detoxification and cellular pathways — MS4A6A, also known as membrane-spanning 4-domains A6A, is a protein found on the surface of certain immune cells. It plays a role in regulating immune responses and has been investigated for its association with inflammatory conditions and autoimmune diseases.
• JMY: Supporting detoxification and cellular pathways — JMY, also known as Jem-1, is a protein that plays a crucial role in regulating gene expression and cell differentiation. It is important for normal development and has been investigated for its involvement in various cellular processes and diseases.

How to prepare – DNA Methylation Test

No special preparation is required before taking the test. Avoid eating, drinking, smoking, or chewing gum for at least 30 minutes before sample collection to ensure sample quality.

Frequently asked questions – DNA Methylation Test

What is methylation?

Methylation is a biological process involved in gene regulation, neurotransmitter balance, DNA synthesis, and homocysteine metabolism. It plays an important role in many normal cellular functions.

What nutrients are connected to methylation?

Methylation pathways rely on nutrients such as folate, vitamin B12, vitamin B6, choline, and methyl donors, which help support normal biochemical processes.

What is the difference between DNA Methylation Test and DNA Methylation Plus?

DNA Methylation Test analyses 31 genes and provides a broader genetic overview of methylation and related processes around the system. DNA Methylation Test Plus analyses 23 key genes and goes into greater detail within the folate cycle, methionine cycle and transsulfuration pathway. The difference is therefore mainly about breadth versus pathway-focused depth, rather than Plus simply analysing more genes.

Does the test measure folate, vitamin B12 or homocysteine?

No. This is a DNA test and does not measure your current levels of folate, vitamin B12 or homocysteine. It analyses genetic variants that may be related to how these nutrients and pathways are handled. Blood or other laboratory testing is needed to assess current biological levels.

How can I use my results?

The report can help you understand genetic factors related to methylation and associated pathways. The results can be used as additional context when making decisions about nutrition, nutrient intake and lifestyle, and may also help identify laboratory markers that could be relevant to discuss with a healthcare professional.

Do my results change over time?

Your DNA does not change over time, so your underlying genetic results remain the same. However, the way genetic predispositions are expressed can be influenced by factors such as nutrition, lifestyle, age and environment.

Can the test diagnose poor methylation?

No. The test does not diagnose impaired or poor methylation. It identifies genetic variants associated with methylation-related pathways and provides information about genetic predispositions. Current methylation-related status would need to be assessed together with relevant laboratory markers and clinical context.

Can I get the raw data from my test?

Raw genetic data may be available depending on the testing service and report format. If you would like access to your raw data, please contact GetTested customer support for information about availability and how to request it.

Customer reviews – DNA Methylation Test

4.7/5 (3)

• 5/5 — Great test for understanding my B vitamin needs.
• 5/5 — Easy to use and the saliva kit was straightforward.
• 4/5 — The insights into my folate metabolism were very helpful for my diet. The report took about 7 weeks to arrive but it was worth the wait.