MTHFR C677T/A1298C Mutations Detection

Also referred as

MTHFR Mutation Test

Genetic Homocysteine Risk Evaluation

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The MTHFR C677T/A1298C Mutations Detection test is a blood test that identifies genetic variations in the MTHFR (methylenetetrahydrofolate reductase) gene. These mutations can influence how the body processes folate and homocysteine, which are crucial for cardiovascular, neurological, and reproductive health. This test helps evaluate inherited risks for conditions associated with elevated homocysteine levels and impaired folate metabolism.

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Understanding MTHFR C677T/A1298C Mutations Detection

MTHFR, or methylenetetrahydrofolate reductase, is an enzyme that plays a critical role in converting folate (vitamin B9) into its active form, which is necessary for proper DNA synthesis, methylation, and homocysteine metabolism. Mutations in the MTHFR gene, particularly C677T and A1298C, can reduce enzyme activity and disrupt these processes, potentially leading to elevated homocysteine levels in the blood. Elevated homocysteine is associated with an increased risk of cardiovascular diseases, pregnancy complications, and certain neurological conditions.

The MTHFR C677T/A1298C Mutations Detection test identifies genetic variations that affect folate processing and homocysteine levels, helping assess risks for cardiovascular issues, blood clots, and pregnancy complications.

This test is recommended if there are symptoms suggestive of hyperhomocysteinemia, recurrent pregnancy loss, a family history of cardiovascular disease, or unexplained blood clotting issues. It is also used to assess genetic predisposition in individuals with a history of stroke, heart attack, or vascular abnormalities. In addition, this test may be considered before or during pregnancy to guide folate supplementation and reduce the risk of neural tube defects in the fetus.

No special preparation is needed for getting the MTHFR C677T/A1298C Mutations Detection test done. However, it is preferred that you share your clinical history, current medications, and supplement use with your doctor before giving the sample, as these may influence the results.

Test result ranges are approximate and may differ slightly between labs depending on the methodology and laboratory guidelines. Do not self-medicate and always consult a doctor to understand the test results correctly.

Please note: This is an outsourced test. The sample is collected by TATA 1MG and processed at a NABL accredited partnered lab.

What does MTHFR C677T/A1298C Mutations Detection measure?

The MTHFR C677T/A1298C Mutations Detection test detects specific changes in the MTHFR gene. The C677T mutation can reduce the enzyme activity significantly, especially if present in two copies (homozygous), leading to higher homocysteine levels. The A1298C mutation typically has a milder effect but can still impact folate metabolism, particularly when combined with the C677T mutation.

Identifying these mutations helps understand how efficiently your body processes folate and regulates homocysteine. Abnormal results may indicate a higher risk for cardiovascular problems, blood clots, pregnancy complications, or certain neurological conditions. Doctors may recommend dietary adjustments, folate, vitamin B12, and B6 supplementation, or closer monitoring based on test results.

Test Information is reviewed by: Dr. Swati Gupta (Anand), MBBS, MD Lab Medicine and written by Dr. Lipika Khurana, BDS, PGDHHM . The test details are for information purpose only. Consult a doctor before taking any test. Last updated on: 2nd Oct 2026

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MTHFR C677T/A1298C Mutations Detection test price for other cities

Price in	New Delhi	Rs. 4369
Price in	Mumbai	Rs. 6749
Price in	Bangalore	Rs. 6459
Price in	Kolkata	Rs. 6429
Price in	Hyderabad	Rs. 6180

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FAQs related to MTHFR C677T/A1298C Mutations Detection

When would I need the MTHFR C677T/A1298C Mutations Detection test?

Doctors may recommend the MTHFR C677T/A1298C Mutations Detection test if there is a personal or family history of cardiovascular disease, stroke, recurrent pregnancy loss, or unexplained blood-clotting disorders. It may also be suggested when homocysteine levels are elevated or to guide folate supplementation during pregnancy.

What symptoms or conditions indicate testing?

Symptoms that may indicate testing include unexplained fatigue, migraine with aura, history of blood clots, recurrent pregnancy complications, or neurological issues. Individuals with a family history of cardiovascular or thrombotic disorders may also benefit from testing.

Are there any risks in taking the MTHFR C677T/A1298C Mutations Detection test?

The test involves a simple blood draw, and the risk is minimal. Some people may experience minor discomfort or bruising at the puncture site, which usually resolves on its own.

How should I prepare for the test?

No fasting is required before the test. Patients should provide a complete medical and family history, including any medications or supplements, as this helps in accurate interpretation.

What if the results of the MTHFR Mutations test are abnormal?

A normal result means no MTHFR C677T or A1298C mutations were found. An abnormal result shows the presence of one or both mutations, which may increase the risk of high homocysteine levels. However, having a mutation does not automatically mean you have a health problem. Your doctor will evaluate the results along with your medical history and other tests to determine any risks or next steps.

What other tests may be ordered with the MTHFR Mutations test?

Other tests that may be ordered along with the MTHFR Mutations test include homocysteine levels, factor V Leiden mutation, and prothrombin gene mutation.

How does Tata 1mg ensure accurate lab test results?

Tata 1mg ensures accurate lab test results through certified laboratories that use advanced technology and adhere to stringent quality control measures. This commitment to high standards guarantees reliable results.

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