Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test
About Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test
| Field | Value |
|---|---|
| Also Known As | Thrombophilia DNA Panel, Thrombotic Risk DNA Panel, Hereditary Thrombophilia Panel, MTHFR/FVL/Prothrombin Mutation Panel |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 5 days |
| Recommended For | Adults, particularly those with a personal or family history of blood clots, unexplained thrombosis, or recurrent pregnancy loss |
| Price | Starting at ₹16,800 |
What is a Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test?
The MTHFR test is a combined genetic panel that screens for inherited mutations linked to an increased tendency to form abnormal blood clots. It is also called a Thrombophilia DNA Panel or Hereditary Thrombophilia Panel. A small blood sample is collected and analysed using real-time PCR (polymerase chain reaction), a method that examines your DNA for specific gene changes. Doctors typically order this test when a patient has unexplained clotting events or a strong family history of blood clot disorders.
What Does a Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test Measure?
This panel checks for mutations in three genes that influence how the blood clots. The table below summarises what each component analyses.
| Gene/Mutation | What It Checks |
|---|---|
| MTHFR C677T | Whether the MTHFR gene has a change at position 677 that reduces folate processing and may raise homocysteine levels in the blood |
| MTHFR A1298C | A second MTHFR gene variant at position 1298 that can also affect folate metabolism |
| Factor V Leiden (F5 G1691A) | A mutation in the Factor V gene that makes it harder for the body to switch off clotting, increasing clot risk |
| Prothrombin/Factor II (F2 G20210A) | A mutation in the Factor II gene that causes the body to produce too much prothrombin (a clotting protein), raising the risk of clots |
Why is a Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test Done?
This test helps identify whether an inherited gene change is contributing to a patient's clotting risk. It is ordered based on a patient's symptoms, personal history, or family history.
Common Symptoms That May Require This Test
The following symptoms or situations commonly lead a doctor to request this test:
- Unexplained blood clots in a vein (deep vein thrombosis, or DVT)
- A blood clot in the lungs (pulmonary embolism)
- Stroke occurring at a young age
- Blood clots forming in unusual locations, such as the abdomen or brain
- Recurrent miscarriages without a clear explanation
- A close family member diagnosed with a hereditary clotting disorder
- Elevated homocysteine levels found in a previous blood test
Conditions This Test Can Help Detect
Your doctor may use results from this panel to investigate the following conditions:
- Thrombophilia, a condition where the blood clots more readily than normal, sometimes called a hypercoagulable state
- Venous thromboembolism, including deep vein thrombosis and pulmonary embolism
- Hyperhomocysteinaemia, which is an abnormally high level of homocysteine in the blood, linked to certain MTHFR mutations
How to Prepare and What to Expect
Preparation for this test is straightforward. The steps below cover everything you need to know before, during, and after sample collection.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink as normal on the day of collection.
Practical Tips Before Your Test
The following tips will help ensure a smooth experience and accurate results:
- Bring a detailed clinical history, including your symptoms, previous test results, and any relevant family history, as this is required for the test
- Inform your doctor about all medications you are currently taking, especially blood thinners (anticoagulants) or hormonal contraceptives
- If you have recently had a blood clot, your doctor may advise waiting several weeks before collecting the sample, as this can improve the accuracy
- Seek pre-test counselling if you have concerns about genetic testing, as this is recommended before undertaking any hereditary mutation panel
- Stay well hydrated before your appointment
Step-by-Step Procedure
- A trained phlebotomist cleans the skin on your inner arm with an antiseptic solution.
- A 2 mL blood sample is drawn from a vein using a sterile needle and collected into a lavender-top EDTA tube.
- The tube is gently inverted several times to mix the blood and prevent it from clotting inside the collection tube.
- The sample is kept as whole blood and is not centrifuged to preserve the DNA.
- The sample is stored refrigerated at 2-8°C and dispatched to the laboratory.
- In the lab, technologists extract DNA from your blood and use real-time PCR to identify any of the four gene mutations in the panel.
Factors That Can Affect Accuracy
- Recent blood transfusions, which can introduce donor DNA
- Certain medications, including blood thinners (warfarin) and hormonal contraceptives
- Liver disease, which affects clotting factor production
- Severe dehydration at the time of sample collection
- Testing too soon after a clotting event, before the body has stabilised
Understanding Your Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test Results
This is a qualitative genetic test. Results report the presence or absence of each mutation and indicate whether one or both copies of the gene are affected (heterozygous or homozygous). The table below outlines the normal findings and how variant results are categorised.
| Parameter | Normal Result | If Mutation Is Detected |
|---|---|---|
| MTHFR C677T | Wild type (CC): no mutation | Heterozygous (CT): one copy affected; Homozygous (TT): both copies affected |
| MTHFR A1298C | Wild type (AA): no mutation | Heterozygous (AC): one copy affected; Homozygous (CC): both copies affected |
| Factor V Leiden (G1691A) | Wild type (GG): no mutation | Heterozygous (GA): one copy affected; Homozygous (AA): both copies affected |
| Prothrombin G20210A | Wild type (GG): no mutation | Heterozygous (GA): one copy affected; Homozygous (AA): both copies affected |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain situations may influence how results are interpreted:
- Pregnancy, inflammatory conditions, and liver disease can affect some related clotting assays and should be disclosed to your doctor when results are reviewed.
- Up to 50% of people carry a change in at least one MTHFR gene; this is considered a common variant, and many people with it never experience any health problems. Similarly, many individuals who carry the Factor V Leiden mutation never develop a blood clot.
How to Maintain Healthy Levels
The following general lifestyle habits support healthy circulation and normal homocysteine levels:
- Include folate-rich foods in your diet, such as leafy green vegetables, lentils, and fortified cereals, alongside adequate B6 and B12 intake
- Avoid sitting still for long periods; take short walks during long journeys or desk-based work
- Stay well-hydrated to support normal blood viscosity and circulation
Lupin Diagnostics Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test Price and Home Collection
This MTHFR test is priced at ₹16,800 and is available with home collection through Lupin Diagnostics.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 16800 |
| CHENNAI | 16800 |
| HYDERABAD | 16800 |
| KOLKATA | 16800 |
| NAVI MUMBAI | 16800 |
| PUNE | 16800 |
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 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.
Home Collection
MTHFR test home collection is available across cities through Lupin Diagnostics. Your blood sample is collected at home by a trained phlebotomist and processed in NABL-accredited laboratories. Digital reports are delivered to you via email or WhatsApp once ready.
Frequently Asked Questions
This panel checks for three inherited gene mutations that raise the risk of abnormal blood clot formation. The results help doctors assess a patient's genetic predisposition to thrombophilia (a clotting disorder) and guide decisions about further investigation or preventive care. The MTHFR test procedure involves a simple blood draw followed by laboratory DNA analysis.
This test is particularly relevant if you have had unexplained blood clots, a stroke at a young age, or recurrent miscarriages. It is also appropriate if a close family member has been diagnosed with hereditary thrombophilia. Your doctor is the best person to advise whether this panel is right for you.
No fasting is needed. You can eat and drink normally before your appointment. However, follow any specific instructions your doctor provides, especially regarding medications or the timing of the test in relation to a recent clotting event.
A positive result means one or more of the mutations tested were found in your DNA. This indicates a higher genetic risk of developing blood clots compared to someone without the mutation. However, many people with these mutations never develop a clot, and your doctor will consider your overall health before advising any next steps.
No. Because these are inherited DNA mutations that do not change over a person's lifetime, this test generally needs to be done only once. There is no need for repeat testing unless advised otherwise by a specialist.
Genetic mutation analysis is largely unaffected by most medications. However, doctors usually recommend waiting a few weeks after stopping certain blood thinners before testing, as timing can affect the interpretation of related coagulation tests. Always tell your doctor about every medication and supplement you are currently taking.
Results are typically available within 5 working days after the sample is collected. The turnaround may vary slightly depending on the collection location and laboratory workload.
Methylenetetrahydrofolate Reductase (MTHFR), FACTOR V (F5), FACTOR II (F2) Test
