Familial Mediterranean Fever: MEFV Full Gene Analysis Test: Booking, Price, and Results
About Familial Mediterranean Fever: MEFV Full Gene Analysis Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | FMF Gene Test, Mediterranean Fever Gene Test, MEFV Sequencing, Pyrin Gene Analysis, FMF Mutation Analysis |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 20 days |
| Recommended For | All ages, males and females; particularly individuals of Mediterranean or Middle Eastern ancestry with recurrent fevers and inflammation |
| Price | Starting at ₹42,000 |
What is a Familial Mediterranean Fever: MEFV Full Gene Analysis Test?
The Familial Mediterranean Fever: MEFV full gene analysis test examines the MEFV gene in full to detect mutations that cause Familial Mediterranean Fever (FMF). FMF is an inherited condition that triggers repeated episodes of fever and painful inflammation. A small blood sample is collected and analysed using Next-Generation Sequencing (NGS), a method that reads the complete gene sequence in detail. The test is also known as the FMF Gene Test, MEFV Sequencing, or Pyrin Gene Analysis.
What Does a Familial Mediterranean Fever: MEFV Full Gene Analysis Test Measure?
The test analyses the MEFV gene, which carries the instructions for making a protein called pyrin. Pyrin helps the body regulate inflammation. The full gene is examined for the following:
| Component | What It Identifies |
|---|---|
| Common pathogenic mutations (V726A, M680I, E148Q, M694V, M694I) | These five mutations account for roughly 70 to 80 per cent of all FMF cases |
| Exon 10 mutations | Over 300 mutations have been reported; those in exon 10 are most commonly linked to FMF symptoms |
| All other sequence variants across the full gene | Classified as benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic |
Why is a Familial Mediterranean Fever: MEFV Full Gene Analysis Test Done?
Doctors order this test when a patient has recurring symptoms that suggest FMF, or when there is a family history of the condition. It is also useful for identifying carriers who carry a gene mutation without showing symptoms.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may recommend the MEFV full gene analysis test:
- Recurrent fever attacks that come and go without a clear cause
- Severe abdominal pain due to inflammation of the abdominal lining
- Chest pain caused by inflammation of the chest lining
- Joint pain and swelling
- Skin rash associated with fever episodes
- Serositis (inflammation of the membranes lining the body cavities)
- Headache occurring during fever attacks
Conditions This Test Can Help Detect
The Familial Mediterranean Fever: MEFV full gene analysis test can help identify the following:
- Familial Mediterranean Fever, a genetic autoinflammatory disorder causing recurrent fevers and painful inflammation of the abdomen, chest, and joints
- Carrier status in individuals with a family history of FMF
- Risk of secondary AA amyloidosis, an abnormal protein deposit condition that most commonly affects the kidneys but can also involve the spleen, liver, and other organs
How to Prepare and What to Expect
No special preparation is needed for this test. The process is straightforward and involves a routine blood draw. Here is what you should know before your appointment.
Do You Need to Fast?
No, fasting is not required. However, avoid eating, drinking, smoking, or chewing gum for 30 minutes before sample collection to ensure optimal sample quality.
Practical Tips Before Your Test
Keep these points in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform the collection staff if you have had a recent blood transfusion or bone marrow transplant, as these can affect the result
- Drink enough water on the day of collection to keep your veins easy to access
- Wear a loose-sleeved top for easy access to your arm
- If other family members have been diagnosed with FMF or are carriers, mention this to your doctor before testing
- Consider genetic counselling before and after the test to help you understand the results
Step-by-Step Procedure
Here is what to expect during the MEFV full gene analysis test procedure:
- A trained phlebotomist (blood collection specialist) cleans a small area on your arm with an antiseptic.
- A small volume (2 ml) of blood is drawn from a vein, usually in the crook of your elbow.
- The blood is collected into a lavender-top EDTA tube, which contains an anticoagulant to prevent clotting.
- The tube is labelled with your name, date of birth, and collection date, and stored at 2 to 8°C for transport.
- The sample is sent to the laboratory, where DNA is extracted from your blood cells.
- The full MEFV gene is sequenced using NGS technology, and all identified variants are classified and reported.
Factors That Can Affect Accuracy
The following factors may affect how reliable your results are:
- Recent blood transfusion or bone marrow transplant (can introduce donor DNA)
- Somatic mosaicism (where different cells in the body carry different genetic information)
- Rare gene variants not yet documented in scientific literature
- Incorrectly labelled or mishandled sample tubes
Understanding Your Familial Mediterranean Fever: MEFV Full Gene Analysis Test Results
Your report will describe any MEFV gene variants found and how they are classified. A doctor or genetic counsellor should always review your results alongside your symptoms and family history.
| Finding | Interpretation |
|---|---|
| No pathogenic variants detected | Negative result; FMF due to MEFV mutations is unlikely, though clinical FMF cannot be fully excluded |
| One pathogenic variant (heterozygous) | Carrier status; you carry one altered copy of the gene and may have mild or no symptoms |
| Two pathogenic variants (homozygous or compound heterozygous) | Positive result; confirms the genetic basis for an FMF diagnosis |
| Variant of uncertain significance (VUS) | The variant's effect is unclear; clinical correlation and genetic counselling are advised |
Disclaimer: "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."
How to Maintain Healthy Levels
Since this is a genetic test, the result itself does not change. However, if FMF is confirmed, the following general steps may support well-being:
- Avoid known triggers such as heavy physical exertion, extreme cold, severe stress, and recent infections, as these can bring on an attack
- Attend regular follow-up appointments with a rheumatologist or clinical geneticist for ongoing disease management
- Ensure first-degree relatives (parents, siblings, children) are informed about their potential carrier risk so they can seek testing if appropriate
Lupin Diagnostics Familial Mediterranean Fever: MEFV Full Gene Analysis Test Price and Home Collection
The Familial Mediterranean Fever: MEFV full gene analysis test is available at Lupin Diagnostics starting at ₹42,000, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 42000 |
| CHENNAI | 42000 |
| HYDERABAD | 42000 |
| KOLKATA | 42000 |
| NAVI MUMBAI | 42000 |
| PUNE | 42000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps for your Familial Mediterranean Fever: MEFV full gene analysis test online booking:
- 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
Lupin Diagnostics offers home collection for the MEFV full gene analysis test across major cities. All samples are processed in NABL-accredited laboratories by experienced specialists. Your digital report is delivered securely via email or WhatsApp once ready.
Frequently Asked Questions
The MEFV gene carries instructions for making a protein called pyrin, which helps control inflammation in the body. When this gene has mutations, the inflammation-regulating process is disrupted, leading to the recurrent fevers and pain seen in FMF. The MEFV full gene analysis test identifies these mutations to support an accurate diagnosis.
This test is suitable for anyone with recurrent unexplained fevers, serositis, or joint and abdominal pain, particularly those with a family history of FMF or of Mediterranean or Middle Eastern descent. It is also recommended for family members of a confirmed FMF patient to check for carrier status.
Not entirely. Around 10 per cent of people with a clinical diagnosis of FMF have no detectable MEFV mutations. If your symptoms are strongly suggestive, your doctor will use the MEFV gene test result alongside other clinical findings rather than relying on it alone.
Carriers typically carry one altered copy of the MEFV gene and usually do not have symptoms. However, if both parents are carriers, each pregnancy carries a 25 per cent chance of having a child with FMF. Genetic counselling is strongly recommended in such cases.
At Lupin Diagnostics, the report for the Familial Mediterranean Fever: MEFV full gene analysis test is delivered within 20 days. Full gene sequencing by NGS requires more processing time than standard tests.
Yes. The test involves only a routine blood draw and is safe at any stage of pregnancy. It is not a standard prenatal test, but may be recommended when both parents are known MEFV carriers and wish to assess risk.
Genetic counselling is strongly advisable. A counsellor can help you understand what the results mean for you and your family, explain the implications of carrier status, and guide decisions about testing other family members.
Familial Mediterranean Fever: MEFV Full Gene Analysis Test: Booking, Price, and Results
