DNA Methylation Pathway Profile

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Assessing Disease Risk

The DNA Methylation Pathway Profile is a tool that enables clinicians to identify single nucleotide polymorphisms (SNPs) that can affect critical biochemical pathways like methionine metabolism, detoxification, hormone balance, and Vitamin D function. SNPs can impact disease risk, and their identification can aid in optimizing health and wellness outcomes for patients. By recommending lifestyle changes and dietary supplements, clinicians can help patients reduce the risk of developing diseases and support metabolic pathways’ optimal functioning.

MosaicDX’ s DNA Methylation Pathway Profile enables clinicians to screen their patients for SNPs that may impact the function of critical biochemical processes. Identifying these SNPs can help clinicians guide patients to make appropriate lifestyle changes and provide nutritional support to optimize health and wellness.

Turnaround Time: 3 weeks

Turnaround times are estimates. Detailed order tracking is available in the MosaicDX Portal.

DNA Methylation Pathway Profile

What Patients Might Benefit from DNA Methylation Testing?

There are a number single nucleotide polymorphisms known to influence many aspects of health including:

  • Bone Health
  • Cancer Risks
  • Cardiovascular Health
  • Detoxification
  • Fertility
  • Insulin Sensitivity
  • Methylation
  • Mitochondrial Function and Metabolism
  • Neurotransmitter Balance


Why Use the DNA Methylation Pathway Profile?

The detection of single nucleotide polymorphisms (SNPs) that may impact health and disease risk is crucial for providing effective clinical care to patients. The DNA Methylation Pathway Profile can identify various SNPs associated with many aspects of health, including insulin sensitivity, bone health, cancer risks, cardiovascular health, detoxification processes, fertility, mitochondrial function, metabolism, methylation, and neurotransmitter balance. These SNPs are DNA sequence variations that occur commonly in the general population, and they can affect protein, enzyme, or cell receptor structure and function. Identifying SNPs and their impact on health is an area of active research that has the potential to lead to more personalized medical interventions.

Interpreting SNP results can be challenging, as it can be difficult to determine the extent to which a DNA genotype is expressed phenotypically. Functional tests, along with evaluating a patient’s symptoms and responses to intervention, are essential for assessing the influence of known SNPs on the phenotype.

Learn More About the DNA Methylation Pathway Profile: Explore FAQs


The DNA Methylation Profile identifies 30 SNPs that may influence health and risk for diseases:

  • ACAT – 1-02
  • AHCY – 19
  • AHCY – 1
  • AHCY – 2
  • BHMT – 1
  • BHMT – 2
  • BHMT – 4
  • BHMT – 8
  • CBS – A360A
  • CBS – C699T
  • CBS – N212N
  • COMT – 61
  • COMT – H62H
  • COMT – V158M
  • MAO A – R297R
  • MTHFR – 3
  • MTHFR – A1298C
  • MTHFR – C677T
  • MTR – A2756G
  • MTRR – 11
  • MTRR – A66G
  • MTRR – H595Y
  • MTRR – K350A
  • MTRR – R415T
  • MTRR – S257T
  • NOS – D298E
  • SHMT – C1420T
  • SUOX – S370S
  • VDR – Fok1
  • VDR – Taq1

Sample Reports

The DNA Methylation Profile report aids clinical support for patients by pinpointing SNPs that could potentially impact health and disease risk.

Test Prep and Instructions

MosaicDX offers patient-friendly sample collection kits that simplify testing. Our kits include visual, step-by-step instructions for test preparation and sample collection, personalized shipping cards, and pediatric collection bags if needed. With MosaicDX, patients can easily collect samples for testing with confidence and accuracy.

Frequently Asked Questions

The ordering process for MosaicDX tests starts with your healthcare practitioner assessing your symptoms and recommending the most appropriate test.

Once a test has been recommended, collection kits can be conveniently ordered and delivered straight to your doorstep. If you already have a collection kit, you can register your test and begin the process at your convenience.

It is important to carefully follow the collection instructions and include all required information about yourself and your specimens when registering your test. When your specimens are collected, you can use the prepaid shipping materials provided in your kit to ship them to MosaicDX. Your results will be accessible online via the MosaicDX portal. We recommend scheduling an appointment with your healthcare practitioner to discuss your results and develop a plan for your healthcare

If you are located outside of the U.S., our customer service team can assist you in finding a distributor in your country. In countries where a distributor is not required, you can place an order through our international patient ordering site. Please note that all international shipping costs must be paid prior to shipping the kit.  

VDR: (the vitamin D receptor) is a nuclear receptor protein that binds 1,25-dihydroxy vitamin D to activate a signaling molecule that is believed to have important roles in a 3rd of the human genome. Some functions that are known are xenobiotic detoxification.

BHMT: (betaine-homocysteine methylatransferase) is a transferase enzyme that catalyzes the transfer of a methyl group from betaine to homocysteine, which produces methionine. Other enzymatic roles for BHMT is the choline oxidation processes. This enzyme is found in the liver and kidney.

COMT: (catechol-O-methyltransferase) functions in the nerve cells, liver, kidneys, and red blood cells. Its role is to help inactivate 2- and 4-hydroxyestradiols, and catecholamine hormones prior to excretion of bile. COMT is also found in the CNS where its role is the degradation of catecholamine neurotransmitters.

MAO A: (monoamine oxidase type A) its main role is to detoxify biological and xenobiotic amines. This enzyme also degrades neurotransmitters in both the central and peripheral nervous system.

AHCY: (adenosylhomocysteinase) an enzyme that breaks down methionine by converting S-adenosylhomocysteinase into homocysteine. This reaction regulates the methylation of other compounds.

CBS: (cystathionine beta-synthase) this enzyme is responsible for using vitamin B6 to convert serine and homocysteine into cystothionine which will be later converted into cysteine.

MTHFR: (methylenetetrahydrofolate reductase) enzyme responsible for the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction allows for the conversion of homocysteine to methionine.

MTR: (methionine synthase) enzyme that catalyzes the re-methylation of homocysteine to methionine using the methyl-B-12 as a cofactor.

MTRR: (methionine synthase reductase) responsible for the regeneration of methyl-B-12.

SHMT: (serine hydroxymethyltransferase) responsible for catalyzing the interconversion of glycine to serine.

SUOX: (sulfite oxidase) mitochondrial enzyme responsible for oxidizing sulfites to sulfates. Sulfites are produced by the transsulfuration cycle or from diet.

Different states have regulations that define the scope of practice for practitioners. It is the practitioner’s responsibility to abide by these rules. Check with your state board of health to determine any restrictions related to laboratory testing. Please note, Mosaic Diagnostics does not offer testing in New York. 

Once you have opened your account, you have the options of ordering kits to stock in your office or drop-ship kits directly to your patients through your MosaicDX portal.   

Watch our short tutorial videos on how to conveniently  

Already have a kit? Watch this video on how to place an order for your patient using a kit from your inventory.   

Please refer to your test’s specific Test Preparation and Instructions for more information regarding the potential effects of medications, foods, and supplements on this test. 

You make also consult your healthcare provider prior to making any changes to your medications.

Mosaic Diagnostics offers written interpretations within test reports and complimentary consultations with our clinical educators for qualified practitioners. To schedule a consultation, simply sign in to your MosaicDX account and book a consultation online. 

We encourage all patients to discuss results with your practitioner.

Our Resources tab also contains educational materials that you may find useful, we also offer MosaicEDGE workshops for qualified practitioners to better understand the fundamentals of lab testing.

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Clinical References