Methylenetetrahydrofolate Reductase (MTHFR) TEST

What are the other names for this test?

MTHFR gene variants, Methylenetetrahydrofolate reductase mutation, C677T and A1298C, MTHFR DNA assay, MTHFR gene polymorphisms 677T>C & 1298A>C mutations, MTHFR DNA testing

What is an MTHFR gene test?

A methylenetetrahyrdofolate reductase (MTHFR) gene test helps to see two common changes in your gene known as MTHFR. A change in this gene is called an MTHFR variant or MTHFR mutation. The DNA that you inherit from your parents contains genes in your cells. Genes help to regulate your physical appearance and the functions of your body. There are two copies of the MTHFR gene, one for each parent. 

Genes give specific instructions to develop the MHFR protein. This protein signals your body to utilize folate. A folate is a form of vitamin B, which is present in many foods. Your body requires folate and other vitamin B to decompose homocysteine, an amino acid. Your body usually decomposes homocysteine while little homocysteine stays in your blood vessels. Any change in an MTHFR gene indicates that MTHFR proteins do not instruct your body to use folate as per requirement. It leads to the deposition of large homocysteine amounts in your blood.

According to some research, high homocysteine levels may damage your blood vessels from within. Damaged blood vessels may show a risk for blood clots, heart disease, and stroke.
Your baby may experience neural tube defects during pregnancy. Neural tube defects are the defects of the brain, spine, or spinal cord during birth. But, most researchers are not sure that high homocysteine levels may actively lead to health disorders or diseases.

What is the purpose of this test?

An MTHFR gene test observes two specific common MTHFR changes known as C677T and A1298C. You may have no health issues if the change occurs in one or both of these genes. This test may perform as an individual or with a combination of genetic tests. This test may use to determine
 

• Whether or not any change in an MTHFR gene may lead to high homocysteine in your blood.
• Chance of forming blood clots, early heart, or disease of blood vessels. Some experts suggest the MTHFR gene test for this cause.

You receive the same treatment if any change happens or not in your gene in the case of increased homocysteine.

When do I need to take this test?

In the usual case, medical professionals do not suggest an MTHFR gene test for the change in the common MTHFR gene. Your healthcare provider may recommend this test if you have conditions that include:
 

• Conducting a blood test that indicates high homocysteine amounts compared to recommend.
• Family history or relative history of an MTHFR gene change
• You and your family may already experience early heart or blood vessel disease.

Your provider may also recommend this test if you use a medicine called methotrexate. Methotrexate helps to treat specific cancers, rheumatoid arthritis, and psoriasis (skin disease). The MTHFR protein guides your body to take this medicine accurately. Your provider may use the MTHFR gene test results to give the suitable dose to you. You can request an online order for this test.

What is the procedure for this test?

An MTHFR gene test is a blood test that requires a blood sample that includes the following steps:
 

• Sit in front of your provider. Be relaxed and stay in a fixed position. It is difficult for your provider to collect a blood sample if you do the muscle movement.
• Remove the portion of your cloth from the arm.
• A small needle will inject into a vein in your arm.
• A small amount of blood will collect in a test tube.
• Blood samples will store in the laboratory for examination of an allergy.
• You can go home for regular activities.
• This test takes at least five minutes.

How do I get ready for this test?

You may inform your provider about medicines, vitamins, and supplements you use. You do not need special preparation for the MTHFR gene test. Do not avoid any medication before consulting with a doctor. You may need to fast for several hours if your provider asks for additional blood tests.

Are there any risks involved in this test?

The MTHFR gene test does not have high risks when you give a blood sample. Veins differ from person to person. Some people may have difficulty providing a blood sample compared to others.

Factors that link when the needle injects into a vein in your arm are:
 

• Extreme Bleeding
• Slight Infection
• Hematoma (Deposition of blood under the skin)
• Pain
• Bruising

What do the test results indicate?

The MTHFR gene test results depend on many factors, such as age, gender, and medical history. The test results may also slightly differ among laboratories. It is because each lab may use different methods for examination.

The test results indicate one or both of the two common changes in the MTHFR gene. The MTHFR test results consist of positive or negative statements.

Positive test results show that you experience an MTHFR change in one or both genes. You may not have any health problems if a change occurs in only one of your MTHFR genes. When you have high homocysteine levels and your MTHFR gene test indicates that you possess

• Two copies of the C677T gene change or only one copy each of C677T and A1298C - This gene change may lead to high homocysteine levels in your blood.
• Two copies of the A1298C gene change - This gene change does not involve large homocysteine amounts.

Negative test results show you do not have any changes in the common MTHFR gene. If you see high homocysteine levels in your blood, this is due to other conditions. These include increasing age, low vitamin B levels, use of specific medications, hypothyroidism, kidney, or another disease.

Understand your MTHFR test results here with professional healthcare.

What additional tests do I need along with the MTHFR test?

Your healthcare provider may recommend the homocysteine blood test to see their levels. You will have the same treatment for high homocysteine levels if it is or does not occur to the change in your MTHFR gene.
If you have low homocysteine levels, your provider will ask for a folate or folic acid test to check for folate levels in your blood. You may need to take vitamin B supplements that contain folic acid.

What else do I need to know about this MTHFR gene test?

It is a popular myth that folic acid will not process if you see any or two copies of the MTHFR C677T gene. Your body will utilize folic acid supplements and all forms of folate in food in an effective way.

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