MTHFR Mutation Detection, PCR Test: Booking, Price, and Results
About MTHFR Mutation Detection, PCR Test
| Field | Value |
|---|---|
| Also Known As | MTHFR Gene Mutation Test, MTHFR DNA Assay Test, Methylenetetrahydrofolate Reductase Mutation Test, C677T and A1298C Mutation Test, MTHFR Gene Polymorphism Test |
| Sample Type | Whole blood (collected in an EDTA tube, a special anticoagulant tube) |
| Fasting Required | No fasting required |
| Report Time | 7 days |
| Recommended For | Adults of all genders; particularly those with high homocysteine levels, recurrent pregnancy loss, or a family history of blood clots or cardiovascular disease |
| Price | Starting at ₹3,800 |
What Is an MTHFR Mutation Detection, PCR Test?
The MTHFR Mutation Detection, PCR test analyses a whole blood sample to detect changes in the MTHFR gene. MTHFR stands for methylenetetrahydrofolate reductase, an enzyme that plays a key role in how your body processes folate (vitamin B9) and regulates an amino acid called homocysteine.
This test is also known as the MTHFR Gene Mutation test and the C677T and A1298C Mutation test. Doctors may order it when blood tests show raised homocysteine levels, or when a patient has unexplained blood clots or a relevant family history.
What Does an MTHFR Mutation Detection, PCR Test Measure?
The MTHFR Mutation Detection, PCR test checks for two specific, well-studied changes in the MTHFR gene using Real Time PCR technology. Results are reported as a genotype, indicating whether you carry zero, one, or two copies of each variant.
The test analyses the following gene variants:
- C677T variant: A change at position 677 of the gene that can reduce the activity of the MTHFR enzyme, particularly at higher body temperatures. Carrying two copies of this variant has the greatest effect on enzyme function.
- A1298C variant: A change at position 1298 of the gene. Its effect on enzyme function is generally smaller than C677T, though carrying two copies can still reduce activity roughly 40% (leaving about 60% normal function).
- Genotype result: For each variant, the result shows whether you are a wild type (no change detected), heterozygous (one changed copy), or homozygous (two changed copies).
Why Is an MTHFR Mutation Detection, PCR Test Done?
This test is ordered when a doctor wants to investigate the genetic basis of certain metabolic or cardiovascular concerns. The sections below outline when testing is typically recommended.
Common Symptoms That May Require This Test
- Raised homocysteine levels found on a previous blood test
- Unexplained or recurrent blood clots (deep vein thrombosis or pulmonary embolism)
- Stroke at an unusually young age
- Recurrent pregnancy loss without a clear cause
- A strong family history of cardiovascular disease
- Assessment before or during methotrexate therapy (used for certain cancers or arthritis)
Conditions This Test Can Help Detect
The MTHFR gene test can help identify a genetic basis for several conditions, including:
- Hyperhomocysteinaemia (persistently elevated homocysteine levels in the blood)
- Homocystinuria, a rare inherited disorder affecting how the body processes certain amino acids
- Increased genetic susceptibility to neural tube defects (structural birth defects affecting the brain and spinal cord)
How to Prepare and What to Expect
The MTHFR Mutation Detection, PCR test requires minimal preparation. Here is what you need to know before your visit.
Do You Need to Fast?
No. Fasting is not required before this test. It analyses DNA from your blood, not metabolic markers that are affected by food intake.
Practical Tips Before Your Test
Being prepared helps ensure accurate and timely results. Keep the following in mind:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor about any current medications, particularly folate, vitamin B12, or vitamin B6 supplements, as these can influence how results are interpreted
- Stay well hydrated before your visit; this makes the blood draw easier
- Wear a top with sleeves that roll up easily to allow comfortable access to your arm
- No special dietary restrictions apply in the days before this test
Step-by-Step Procedure
- Arrive at your nearest Lupin Diagnostics centre and present your clinical history and booking details.
- A trained phlebotomist (blood collection specialist) will clean a small area on your arm, usually the inside of your elbow.
- A fine needle is inserted into a vein and 2 ml of whole blood is collected into a lavender-top EDTA tube. You may feel a brief, mild sting.
- The needle is removed, a small dressing is applied, and the entire collection takes under five minutes.
- The sample is stored under refrigeration (2 to 8 degrees Celsius) to preserve the DNA until it is transported to the laboratory.
- In the laboratory, Real Time PCR technology is used to detect the C677T and A1298C gene variants. Your report gets ready within 7 days.
Factors That Can Affect Accuracy
- Improper sample storage or delays in transport to the laboratory
- Sample contamination during collection
- Collecting blood in the wrong tube type (an EDTA tube is essential)
- Incomplete or missing clinical history, which is required for result interpretation
- Nutritional status (folate and B12 levels), which affects how the genetic result is interpreted clinically
Understanding Your MTHFR Mutation Detection, PCR Test Results
Results from the MTHFR Mutation Detection, PCR test are reported as genotypes for each variant. A qualified doctor should always review these results in the context of your full clinical history.
| Parameter | Result | Interpretation |
|---|---|---|
| C677T | CC (wild type) | No mutation detected |
| C677T | CT (heterozygous) | One copy of the variant present |
| C677T | TT (homozygous) | Two copies of the variant present |
| A1298C | AA (wild type) | No mutation detected |
| A1298C | AC (heterozygous) | One copy of the variant present |
| A1298C | CC (homozygous) | Two copies of the variant present |
A negative result means that neither common MTHFR variant was found in your blood sample. If your homocysteine levels are still raised, your doctor will investigate other possible causes, such as low B-vitamin intake, certain medications, thyroid conditions, or kidney disease.
A positive result (one or two copies of a variant) does not automatically mean you have a health problem. Many people carry MTHFR variants and have normal homocysteine levels. Even when two copies of a variant are present, sufficient folate intake can largely offset the reduction in enzyme activity. The MTHFR variant alone is not classified as a clotting disorder.
Disclaimer: This information serves as a general guide. Your doctor will review your genetic variants alongside your age, total homocysteine levels, health history, and other clinical findings. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
The following general wellness habits can help support healthy homocysteine metabolism:
- Eat a diet rich in folate by including leafy green vegetables, lentils, chickpeas, and fortified cereals regularly
- Ensure adequate intake of vitamins B12 and B6 through dairy, eggs, fish, and pulses, or discuss supplementation with your doctor
- If you carry an MTHFR variant, ask your doctor whether a transitional methylated form of folate (5-MTHF) may be better suited to your needs, as some people find it easier to absorb
Lupin Diagnostics MTHFR Mutation Detection, PCR Test Price
The MTHFR Mutation Detection, PCR test is priced starting at ₹3,800 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 3800 |
| CHENNAI | 3800 |
| HYDERABAD | 3800 |
| KOLKATA | 3800 |
| NAVI MUMBAI | 3800 |
| PUNE | 3800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website
- Choose your city and preferred centre location
- Visit the centre at your scheduled time for sample collection
- Receive your report via email or WhatsApp within the stipulated turnaround time
Frequently Asked Questions
The MTHFR gene carries instructions for making an enzyme that helps process folate and regulate homocysteine, an amino acid found in the blood. When this gene has certain variants, the enzyme may work less efficiently, which can sometimes lead to raised homocysteine levels. The MTHFR gene test helps identify whether such variants are present.
No fasting is needed. This is a genetic test that examines DNA from your blood sample, and food intake does not affect the result. You can eat and drink normally before your appointment.
MTHFR variants are among the most common gene changes in the population. Estimates suggest that up to half of all people carry a change in at least one copy of the MTHFR gene. Having a variant is therefore not unusual, and most people with MTHFR variants live healthy lives without any complications.
Not necessarily. Carrying an MTHFR variant does not guarantee that you will develop high homocysteine levels or any related health condition. Even in people who carry two copies of the variant, maintaining good folate and B-vitamin intake can largely compensate for the reduced enzyme activity.
The genetic result is most meaningful when interpreted alongside your symptoms, medical background, and other test results such as homocysteine levels. Providing a detailed clinical history at the time of testing allows the laboratory and your doctor to give a more accurate and useful interpretation.
A homocysteine test measures the actual level of homocysteine in your blood at the time of testing. The MTHFR gene test identifies genetic variants that may affect how your body processes folate and regulates homocysteine. Doctors often order the MTHFR test only after a homocysteine test has already shown raised levels.
No. Because your DNA does not change, the result of an MTHFR Mutation Detection, PCR test remains the same throughout your life. The test is typically performed once, and the result is used alongside other clinical information to guide your doctor's recommendations.
MTHFR Mutation Detection, PCR Test: Booking, Price, and Results
