MTHFR Gene Mutation Test Kit

4 customer reviews


Our MTHFR gene mutation test kit may be used to detect two relatively common mutations in the MTHFR gene. There are two important SNPs in the MTHFR gene: C677T and MTHFR A1298C.

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  • These tests are meant for individual consumption. If you wish to order multiple test kits for multiple people, you will need to register as a provider.
  • How do I register as a provider?

Sample Type

  • Saliva sample collected with Zymo SafeCollect Swab

Why should I get tested?

  • MTHFR (Methylenetetrahydrofolate Reductase) is very critical in the function of methylation, a complex biochemical process that regulates gene expression and governs intracellular detoxification. MTHFR is needed for the metabolism of folate and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. MTHFR has been linked by many types of research 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 been shown in research to have a greater impact on someone’s health.
  • MTHFR A1298C has not been found clinically to have an effect on homocysteine levels. This allele has a greater effect on 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 a greater risk of heart disease.
  • The MTHFR test is extremely important to evaluate DNA methylation function. Mutations occur in more than 80% of the population


  • Note: Result turnaround times are only an estimate and may be subject to change.
    • Choose the option that is right for you.
    • Depending on what you choose shipments can arrive anywhere from 1-5 days

Patient Preparation

  • No special preparation is needed
  1. “MTHFR Mutation: Symptoms, Tests, and Treatment.” Medical News Today, MediLexicon International,
  2. “MTHFR Mutation Test: MedlinePlus Medical Test.” MedlinePlus, U.S. National Library of Medicine, 24 June 2021,
Weight 1 lbs
Dimensions 10 × 6 × 1.25 in

Self-Test Collection Instructions

Please download the PDF below for sample collection instructions.

Buccal Swab PDF

Sample Report

Sample Report

View a sample report by clicking here.

4 reviews for MTHFR Gene Mutation Test Kit

  1. Jack

    The test was delivered to me fairly quickly and the instructions were clear. I had my results in a few days after taking the test and sending it back to the lab.

  2. Heather

    This process was so easy. The test was delivered to me quickly and after I returned it, I received the results quickly and easily also. The patient portal is so easy to use. The test itself was easy to do. The results were very helpful. It helped my doctor decide which medication I should be taking.

  3. Anonymous

    Fast shipping

  4. Evie

    The instructions were easy to follow and I received my results in a timely manner. The lab was also very responsive to my questions regarding my results. I will definitely be purchasing other tests in the future.

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