Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test
About Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test
| Field | Value |
|---|---|
| Also Known As | MTHFR Mutation Test, MTHFR Gene Test, MTHFR DNA Assay Test, C677T and A1298C Test, MTHFR Gene Polymorphism Test |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 5 days |
| Recommended For | All genders and ages; commonly ordered for adults with elevated homocysteine, family history of cardiovascular disease, or unexplained blood clots |
| Price | Starting at ₹6,000 |
What is a Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test?
The Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) test is a genetic test that checks your blood for two common changes, or variants, in the MTHFR gene.
This gene carries instructions for making an enzyme that helps your body process folate, a B vitamin essential for normal cell function. The test is also referred to as the MTHFR mutation test or the MTHFR gene test. A small sample of peripheral blood is collected for analysis using Real Time PCR.
What Does a Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test Measure?
This test looks for two specific variants in the MTHFR gene and reports whether each is absent, present in one copy (heterozygous), or present in two copies (homozygous). The table below explains what each variant means.
| Variant | What It Is |
|---|---|
| C677T | A change at position 677 of the MTHFR gene. One copy can reduce enzyme activity; two copies can reduce it significantly |
| A1298C | A second common variant in the MTHFR gene. Two copies are associated with reduced enzyme activity. |
| Compound heterozygosity | Carrying one copy of each variant (C677T and A1298C). This combination results in reduced enzyme activity. |
Why is a Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test Done?
A doctor may request the Methylenetetrahydrofolate Reductase test when certain symptoms or risk factors are present. Below are the common reasons this test is ordered.
Common Symptoms That May Require This Test
The following symptoms or situations may lead a doctor to request this test:
- Unexplained elevated homocysteine levels in the blood
- Family history of early cardiovascular disease
- Unexplained blood clots (thrombosis) in veins
- Recurrent pregnancy loss with no identified cause
- History of stroke or heart attack at a young age
- Neurological symptoms in rare, severe cases of enzyme deficiency
Conditions This Test Can Help Detect
This test can provide information relevant to several conditions:
- Hyperhomocysteinemia (raised homocysteine levels in the blood), a condition linked to increased risk of vascular and neurodegenerative diseases
- Homocystinuria due to MTHFR deficiency, a rare and severe form of enzyme deficiency
- Elevated homocysteine levels, which may be associated with hardening of the arteries (atherosclerosis), heart attack, stroke, or venous thrombosis
How to Prepare and What to Expect
No special preparation is needed for this test. Here is what you should know before and during sample collection.
Do You Need to Fast?
No fasting is required for the MTHFR gene test. You can eat and drink normally before giving your blood sample.
Practical Tips Before Your Test
A little preparation helps the process go smoothly. Keep the following in mind:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history
- Inform your doctor about all current medications and supplements
- Wear loose-fitting clothing that gives easy access to your arm for the blood draw
- Stay well hydrated before the test
- Let the laboratory know if you have recently had a blood transfusion or bone marrow transplant
Step-by-Step Procedure
The blood collection process is straightforward and takes only a few minutes. Here is what to expect:
- A trained phlebotomist will choose a suitable vein, usually on the inside of your arm.
- An elastic band is placed around your upper arm to make the vein more visible.
- The skin over the vein is cleaned with an antiseptic wipe.
- A small needle is used to draw 2 ml of blood into an EDTA (lavender-top) tube. You may feel a brief sting.
- The needle is removed, and a small cotton pad is placed over the site. The draw takes less than five minutes.
- The sample is labelled, stored under refrigeration (2 to 8°C), and sent to the laboratory for Real Time PCR analysis.
Factors That Can Affect Accuracy
Certain factors may lead to inaccurate results. These include:
- Recent blood transfusion or bone marrow transplant, which can introduce DNA from a donor
- Mislabelled or contaminated samples
- Somatic mosaicism (genetic differences between cells in the same person)
- Errors in reported family relationships, which may affect interpretation of inherited variants
Understanding Your Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test Results
Results from the MTHFR C677T and A1298C test show the genotype for each variant. The table below explains the possible findings.
| Variant | Genotype | Meaning |
|---|---|---|
| C677T | CC (wild type) | Normal; no variant detected |
| C677T | CT (heterozygous) | One copy of the variant; mild reduction in enzyme activity (~35%) |
| C677T | TT (homozygous) | Two copies of the variant; significant reduction in enzyme activity (~70%) |
| A1298C | AA (wild type) | Normal; no variant detected |
| A1298C | AC (heterozygous) | One copy of the variant; mild effect on enzyme activity |
| A1298C | CC (homozygous) | Two copies of the variant; moderate reduction in enzyme activity (~40%) |
Disclaimer: These findings represent fixed genetic markers, not fluid reference ranges. Your doctor will interpret results based on clinical symptoms and history. Always consult a qualified specialist for medical advice.
Current scientific evidence indicates that MTHFR variants alone, in the absence of elevated homocysteine levels, are not considered a risk factor for disease.
Results During Special Conditions
Certain circumstances can affect how results are interpreted or whether they are reliable:
- Blood transfusion or bone marrow transplant: Donor DNA introduced into the sample may lead to inaccurate genotyping. Inform your doctor if you have had either of these recently.
- Low folate or vitamin B12 status: This does not change the genetic result itself, but significantly affects its clinical meaning. Those with the homozygous TT genotype are more prone to elevated homocysteine when their folate status is low.
- Normal homocysteine alongside a TT genotype: Individuals with the homozygous TT result who have normal homocysteine levels do not have a raised risk of blood clots or recurrent pregnancy loss based on this result alone.
Supporting Folate Metabolism
These general wellness tips support normal folate and homocysteine metabolism:
- Include folate-rich foods in your diet, such as leafy green vegetables, legumes, and fortified cereals
- Ensure adequate intake of vitamins B6 and B12, which work alongside folate in the body's homocysteine processing pathway
- Discuss any supplement needs with your doctor rather than self-prescribing, particularly if you carry an MTHFR variant
Lupin Diagnostics Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test Price
The Methylenetetrahydrofolate Reductase test cost at Lupin Diagnostics starts at ₹6,000. Home sample collection may be available in select cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 6000 |
| CHENNAI | 6000 |
| HYDERABAD | 6000 |
| KOLKATA | 6000 |
| NAVI MUMBAI | 6000 |
| PUNE | 6000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
You can book the Methylenetetrahydrofolate Reductase test online in a few simple steps:
- Select the test on the Lupin Diagnostics website
- Choose your city and preferred time slot
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre
- Receive your report via email or WhatsApp within the stipulated turnaround time
Frequently Asked Questions
The MTHFR gene provides instructions for making an enzyme that helps your body use folate, a B vitamin found in many foods. The Methylenetetrahydrofolate Reductase test checks for two common gene variants that may reduce this enzyme's activity, potentially leading to raised homocysteine levels. A doctor orders it when there are specific clinical reasons, such as unexplained elevated homocysteine or a family history of related conditions.
No. Having one or both of these variants does not guarantee that you will develop any health condition or that your homocysteine levels will be elevated. Most people with these variants lead healthy lives. Your doctor will consider your overall health and other test results when interpreting findings.
Routine testing is not recommended for the general population. Major medical bodies, including the American College of Medical Genetics, advise against routine MTHFR genetic testing. The test is most useful when ordered for specific clinical reasons by a qualified doctor.
No. The procedure involves a standard blood draw from a vein in your arm. You may feel a brief sting when the needle is inserted and removed. The entire process takes less than five minutes and does not require any sedation or recovery time.
Doctors often request a plasma homocysteine level test alongside the MTHFR gene test for a fuller picture. Other tests that may be ordered include Factor V Leiden mutation analysis and prothrombin gene mutation testing, depending on the clinical situation.
This is a molecular genetic test, not a routine blood chemistry test. The laboratory analyses your DNA using Real Time PCR to identify specific gene variants. As DNA does not change, this test is typically performed only once and is not used for ongoing health monitoring.
Bring a detailed clinical history, including your symptoms, any previous test results, and your family history. This information is required for the test. Also, carry a list of your current medications and supplements to share with the collection team.
Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test
