MTHFR Mutation Test
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| MTHFR Mutation Test : - What is an - MTHFR - gene test? A MTHFR gene test uses a sample of your blood to look for two very common changes in a gene called MTHFR. A change in this gene is also called an MTHFR variant or MTHFR mutation. Genes are parts of DNA in your cells that you inherit from your parents. Genes carry information that controls what you look like and how your body works. You have two copies of the MTHFR gene, one from each parent. The genes provide instructions for making the MTHFR protein. This protein helps your body use folate, a type of B vitamin that you get from many foods. Your body needs folate and other B vitamins to break down an amino acid called homocysteine. Normally, your body quickly breaks down homocysteine, so you have very little in your bloodstream. But if you have a change in an MTHFR gene, the MTHFR proteins your body makes may not process folate as well as they should. As a result, you may have increased levels of homocysteine in your blood. In general, researchers aren't certain that increased homocysteine levels directly cause health problems. But some studies have linked too much homocysteine to damage to the inside of your blood vessels. This may increase the risk for blood clots, heart disease, and stroke. Also, the risk of having a baby with neural tube defects is slightly higher if homocysteine levels are high during pregnancy. Even if a homocysteine blood test shows that your homocysteine levels are higher than normal, an MTHFR gene test is generally not needed. That's because the treatment for high homocysteine levels is the same whether or not it's caused by a common change in your MTHFR gene. To lower homocysteine levels, your health care provider will usually recommend taking vitamin B supplements that include folic acid, which is a form of folate. However, if you have the gene variant MTHFR, your provider may recommend methylfolate (5-MTHF) instead since your body may be able to use this form more easily. The extra vitamins can make up for an MTHFR gene that's not fully working. Your provider may recommend eating more foods with folate, too. Before making changes in your health habits, talk with your provider. Studies show that taking folic acid greatly reduces the risk of neural tube defects in babies. So, even if you have the MTHFR gene variant, the U.S. Centers for Disease Control and Prevention (CDC) recommends folic acid supplements for everyone who may become pregnant. Folic acid may also decrease the risk of stroke from a blood clot in adults. But this treatment doesn't appear to decrease the risk of heart disease. Other names: methylenetetrahydrofolate reductase mutation, C677T and A1298C, MTHFR DNA assay, MTHFR DNA testing, MTHFR gene variants, MTHFR gene polymorphisms 677T>C & 1298A>C mutations | |
| Review Date: 30/09/2024 | Updated By: |