What is an MTHFR mutation test?This test looks for mutations (changes) in a gene called MTHFR. Genes are the basic units of heredity passed down from your mother and father.Everyone has two MTHFR genes, one inherited from your mother and one from your father. Mutations can occur in one or both MTHFR genes. There are different types of MTHFR mutations. An MTHFR test looks for two of these mutations, also known as variants. The MTHFR variants are called C677T and A1298C.The MTHFR gene helps your body break down a substance called homocysteine. Homocysteine is a type of amino acid, a chemical your body uses to make proteins. Normally, folic acid and other B vitamins break down homocysteine and change it into other substances your body needs. There should then be very little homocysteine left in the bloodstream.If you have an MTHFR mutation, your MTHFR gene may not work right. This may cause too much homocysteine to build up in the blood, leading to various health problems, including:Homocystinuria, a disorder that affects the eyes, joints, and cognitive abilities. It usually starts in early childhood.An increased risk of heart disease, stroke, high blood pressure, and blood clotsIn addition, women with MTHFR mutations have a higher risk of having a baby with one of the following birth defects:Spina bifida, known as a neural tube defect. This is a condition in which the bones of the spine do not completely close around the spinal cord.Anencephaly, another type of neural tube defect. In this disorder, parts of the brain and/or skull may be missing or deformed.You can reduce your homocysteine levels by taking folic acid or other B vitamins These can be taken as supplements or added through dietary changes. If you need to take folic acid or other B vitamins, your health care provider will recommend which option is best for you.Other names: plasma total homocysteine, methylenetetrahydrofolate reductase DNA mutation analysis
