MTHFR Gene Mutation Test

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

Turn Around Time

• Note: Result turnaround times are only an estimate and may be subject to change.
• 1-3 Business days

Patient Preparation

• No special preparation is needed

References

1. “MTHFR Mutation: Symptoms, Tests, and Treatment.” Medical News Today, MediLexicon International, www.medicalnewstoday.com/articles/326181
2. “MTHFR Mutation Test: MedlinePlus Medical Test.” MedlinePlus, U.S. National Library of Medicine, 24 June 2021, medlineplus.gov/lab-tests/mthfr-mutation-test/.