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.
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 epinephrine, serotonin, L-Dopa, melatonin, 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.
- 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.
- 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! Recommended reading: How To Calculate Your Folate Levels and Why This Is Important
- 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.
- Do You Need A Prescription? No. If you order a cheek swab home testing kit from us you do not need a prescription.
- 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.
- Do You Need To Have Any 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 symptoms.
- 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.
- Do You Need Any Test Preparation? No. This test does not require any preparation.
- 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.
Instructions for the collection kit
We ship from California and below you will find an estimate of when to expect delivery of MTHFR test kits by free shipping (first class mail):
Orders from the West Coast: 3 for 4 days
Orders from the Mid West: 4 to 6 days
Orders from the East Coast: 6 to 7 days
International orders: 1 1/2 to 2 weeks