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MTHFR - Methylene tetra hydrofolate Reductase (C677T, A1298C) Mutation Detection

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  • MTHFR - Methylene tetra hydrofolate Reductase (C677T, A1298C) Mutation Detection

Methylene tetra hydrofolate Reductase (MTHFR) is an enzyme that is important for processing amino acids, the building blocks of proteins. This enzyme is also essential for converting folate (vitamin B9) into its active form, which is used in the creation of DNA and other genetic material. MTHFR gene mutations, specifically C677T and A1298C, can lead to a less active form of the MTHFR enzyme, leading to high levels of a substance called homocysteine in the blood, which can increase the risk of certain health problems.


Two common variants in the MTHFR gene, C677T and A1298C, are associated with a slightly increased risk of developing a range of health problems, including heart disease, stroke, hypertension, preeclampsia, and certain types of cancer. Other conditions such as depression, migraine, and recurrent miscarriages have also been linked with these variants.

  • Profile Name: MTHFR - Methylene tetra hydrofolate Reductase (C677T, A1298C) Mutation Detection
  • Sample Type: Blood
  • Preparations Required: There are no special preparations required for this test. You should continue to take your medications and follow your normal diet unless your healthcare provider tells you otherwise.
  • Report Time: 3 Days

The MTHFR mutation detection test is a genetic test that identifies the presence of C677T and A1298C mutations in the MTHFR gene. The test uses a blood sample and DNA sequencing or another type of genetic analysis to detect these mutations.

Home Sample Collection Process
1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
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Download Reports
Frequently Asked Questions

A positive result indicates you have one or more mutations in the MTHFR gene. This can affect the function of the MTHFR enzyme and may increase your risk for certain health problems. However, having an MTHFR mutation does not guarantee you will develop these conditions.

The MTHFR mutation test is used to detect mutations in the MTHFR gene that can lead to high levels of homocysteine in the blood, increasing the risk of various health problems.

Individuals with a family history of conditions associated with MTHFR mutations, such as cardiovascular disease, stroke, or recurrent miscarriages, may consider getting tested. Also, those with high homocysteine levels might benefit from this test.

A healthcare provider will take a blood sample, which will then be sent to a laboratory. The laboratory will analyze the sample to detect any mutations in the MTHFR gene.

While you can't change your genetic makeup, lifestyle modifications like eating a balanced diet rich in folate, regular exercise, and avoiding smoking and alcohol can help manage the risks associated with MTHFR mutations.

The test itself carries minimal risks, similar to those of a routine blood draw. However, the results can lead to stress or anxiety about potential health risks.

The test is highly reliable in detecting the presence of MTHFR mutations. However, a positive result does not mean you will definitely develop associated health problems.

Some research suggests that MTHFR mutations, particularly the C677T variant, may be associated with an increased risk of depression and other mental health disorders. However, more research is needed in this area.

Yes. A diet rich in folate and certain B vitamins can help manage high homocysteine levels often seen in individuals with MTHFR mutations. Regular exercise, stress management, and avoiding alcohol and tobacco can also help manage potential health risks.

Taking supplements of folate and vitamins B6 and B12 can help lower homocysteine levels. It's important to discuss with your healthcare provider before starting any new supplement regimen.

Homocysteine is an amino acid in the blood. High levels of homocysteine can damage the lining of the arteries and increase the risk of blood clots, heart disease, and stroke.

MTHFR mutations are inherited. If you have a mutation, there is a chance your children may also have it. If you're concerned about this, consider speaking with a genetic counselor.

Some healthcare providers may recommend individuals with MTHFR mutations take extra folic acid or L-methylfolate (the active form of folate), as their bodies may not convert folic acid as effectively.

Women with MTHFR mutations may have an increased risk of certain complications, such as preeclampsia, miscarriages, and neural tube defects in babies. However, not all women with these mutations will experience complications.

MTHFR mutation testing is not a standard part of prenatal screening. It may be considered in certain situations, such as recurrent miscarriages or a family history of cardiovascular disease or other conditions associated with MTHFR mutations

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