MTHFR/COMT Testing Kit

Methylation Testing. Determine if you have a MTHFR or COMT gene variant present with this easy home cheek-swab collection.




MTHFR (Methylenetetrahydrofolate Reductase) is very critical in the function of methylation, a complex biochemical process that regulates gene expression (turns genes on & off) and governs intracellular detoxification. MTHFR is needed for the metabolism of folate (folic acid) and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. MTHFR has been linked by many researches to conditions such as Blood Clots, Heart Disease, Fibromyalgia, Migraine Headaches, Infertility, Autism, Birth Defects, Miscarriages, IBS, Mental Illness and many more.


Two versions of this enzyme are made from the gene. The longer form, called membrane-bound catechol-O-methyltransferase (MB-COMT), is chiefly produced by nerve cells in the brain. Other tissues, including the liver, kidneys, and blood, produce a shorter form of the enzyme called soluble catechol-O-methyltransferase (S-COMT). This form of the enzyme helps control the levels of certain hormones. The COMT test gene helps get rid of excess neurotransmitters and estrogens. A homozygous mutation of the V158M allele is associated with a 40% reduction in COMT activity. Patients receiving estrogen therapy should pay attention to this gene especially if they have a family history of estrogen related cancers.

*Please note that this testing kit does NOT include an analysis to go over your results with one of our coaches. We highly recommend getting the analysis as the results can be a lot to digest on your own. An analysis with ones of our coaches provides you with a full recap email, step-by-step instructions for implementing changes and direct 1:1 support.



COMT V158M gene test. It has a direct impact on how you treat MTHFR mutations, plus more. Safe for men, women and children of all ages… even babies.

A homozygous mutation may also affect the way patients process 5-L-Methylfolate, therefore it is very important to have a COMT test in addition to MTHFR.


(Catechol-O-Methyltransferase) – The COMT gene codes for the essential COMT enzyme that is involved in the inactivation of catecholamines and catecholestrogens. Scientific research has demonstrated that a common mutation in the COMT locus results in the conversion of the amino acid valine to methionine at position 158, and causes a dramatic reduction in the enzyme’s ability to metabolize these neurotransmitters and catecholestrogens. The enzyme is notably active in the prefrontal cortex, or PFC; the area of the brain that gives rise to what we perceive as our personality, emotions, behavior inhibition, abstract thinking, and short-term memory. Val (G) allele carriers have higher enzyme activity resulting in greater stress resiliency and lower neurotransmitter levels, while Met (A) allele carriers have lower enzyme activity resulting in reduced stress resiliency and higher neurotransmitter levels, and heterozygous Val/Met allele carriers exhibit an intermediate enzyme activity.


Polymorphisms in the COMT gene analyzed in our COMT test have been implicated in association with various mental health disorders through the resulting changes in neurotransmitter levels. Disorders that may be associated with this gene variant in some populations include drug abuse, alcohol abuse, severity of schizophrenic symptoms, obsessive compulsive disorder in men, panic disorder, post-traumatic stress disorder, and bipolar affective disorder.


The COMT gene polymorphisms have also been linked to pain sensitivity. It has been suggested that a reduction in neurotransmitter inactivation, such as is seen with the Met/Met genotype, results in higher levels of neurotransmitter, leading to chronic stimulation of the neurotransmitter receptors. This overstimulation may result in less endogenous opioids being produced that help to provide pain relief and euphoria. Therefore, Met/Met allele carriers perceive a higher level of pain, while Val/Val carriers have the greatest resistance to pain. Interestingly though, studies have shown that Met/Met allele carriers require less pain killers to achieve pain relief, possibly due to the increase in µ-opioid receptors seen with this genotype, while Val/Val allele carriers require the most medication for pain management. The COMT gene also has been shown to have an effect on neurotransmitter therapy in Parkinson’s disease treatment. Commonly COMT inhibitors are utilized in Parkinson’s treatment to augment and prolong neurotransmitter treatment. COMT gene polymorphisms affect the bioavailability of these medications, yielding an enhanced effect in the Val/Val allele carriers as compared to Met/Met allele carriers.



MTHFR Home Test Kits test the two most important genes: MTHFR C677T and MTHFR A1298C. A simple cheek swab. Safe for men, women and children of all ages… even babies.

MTHFR C677T can also lead to high homocysteine. Although it does not necessarily mean there will be high homocysteine levels in a clinical setting as there are other factors that can influence homocysteine levels. This allele has shown in research to have a greater impact in someone’s health.

MTHFR A1298C has not been found clinically to have an effect in homocysteine levels. This allele has a greater effect in the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as serotonin, etc. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.

Compound heterozygous is considered severe or “at risk”. High homocysteine has a high risk factor for numerous diseases. The MTHFR mutations with homozygous or compound heterozygous are more likely to have elevated homocysteine and greater risk of heart disease.

MTHFR test is extremely important to evaluate DNA methylation function. Mutations occurs in over 80% of the population.



  1. Why don’t I just measure homocysteine? The reason you test for MTHFR mutations is not because of homocysteine but rather to find out if you have enough usable folate for your methylation. Homocysteine is not the best marker for methylation; Folate + MTHFR are! Example: MTHFR C677T raises homocysteine levels but CBS (Cystathionine Beta Synthase) C699T lowers homocysteine. If you have a homozygous mutation of MTHFR and a homozygous mutation of CBS your homocysteine may look normal but your body will not have enough conversion of homocysteine into methionine and you will be in undermethylation. There are other known factors that can also elevate homocysteine like thyroid disorder and kidney disease.
  2. Why don’t I just measure serum folate? When you measure serum folate you are measuring every type of folate including unmetabolized folic acid and raw folate. Your body still needs to metabolize the serum folate into 5-L-MethyleneTetraHydroFolate, the usable form. If you have a homozygous mutation on MTHFR C677T you will lose roughly 70% enzyme activity and therefore your true usable folate could be as low as 30% of what the blood test shows. MTHFR is paramount for methylation!
  3. Why should you get tested? MTHFR affects methylation which in turn may affect many aspects of your health. MTHFR may also elevate homocysteine but this is not the main reason to get tested. The sooner you know if you have a mutation the sooner you can take steps to address it and prevent possible complications.
  4. Do You Need A Prescription? No. If you order a cheek swab home testing kit from us you do not need a prescription.
  5. How Accurate Is A Saliva Test Compared To A Blood Test? A saliva test is just as accurate as a blood test. Additionally, the saliva or cheek swab test is non-invasive and is the most recommended form for children and babies. Many doctors also prefer the cheek swab test over the blood test for convenience reasons.
  6. Do You Need To Have Any MTHFR Symptoms To Get Tested? No. Methylation imbalances often begin with no symptoms until much later when your body starts to break down. When that happens, depending on the system that is breaking down you may experience a variety of different MTHFR mutation symptoms.
  7. Do You Need To Have Elevated Homocysteine To Get Tested? No. There are also other causes for homocystenuria (elevated homocysteine) and MTHFR mutation is only one of the possible causes.
  8. Do You Need Any Test Preparation? No. This test does not require any preparation.
  9. Is There Anything Else I Should Know? People with MTHFR mutations are at increased risk for numerous health conditions. You should consult your physician to find out what are your risks based on your results. MethyleneTetraHydroFolate Reductase.


Hi, I’m Brianne

Here at The Holistic RN you’ll find a place where holistic healing and western medicine come together to create a brand new way of looking at your health- including real food recipes, easy to understand information and overflowing inspiration. Let’s get started!

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