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Familial Mediterranean Fever: MEFV Full Gene Analysis Test

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Familial Mediterranean Fever: MEFV Full Gene Analysis Test

Short Name: MEFV Full Gene Analysis

Also known as: FMF Genetic Test, MEFV Mutation Analysis, Familial Mediterranean Fever DNA Test

Familial Mediterranean Fever: MEFV Full Gene Analysis Test test available at DNA Labs India for ₹36,000. Uses Next-Generation Sequencing (NGS) on Peripheral blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Genetic Analysis🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the MEFV Full Gene Analysis is to confirm a diagnosis of Familial Mediterranean Fever (FMF) by detecting mutations in the MEFV gene, identify carriers of the disease, and guide appropriate treatment and genetic counseling.

Test Code
2997
Price
₹36,000
Sample Type
Peripheral blood
Result Time
4-6 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure a doctor's prescription is available if applicable.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using a needle and collected in an EDTA vacutainer.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:No fasting required. Ensure a doctor's prescription is available if applicable.
2
During the Test:Blood sample collection via venipuncture, typically taking a few minutes.
3
After the Test:No restrictions after sample collection. Results will be available in 4-6 weeks.

About This Test

Who Should Get This Test

The purpose of the MEFV Full Gene Analysis is to confirm a diagnosis of Familial Mediterranean Fever (FMF) by detecting mutations in the MEFV gene, identify carriers of the disease, and guide appropriate treatment and genetic counseling.

How to Prepare

  • Use aseptic technique for blood collection
  • Collect 3 ml of peripheral blood in EDTA vacutainer
  • Label the sample correctly with patient details
  • Transport at room temperature with cool pack if needed

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for MEFV is essential for accurate diagnosis of Familial Mediterranean Fever, especially in patients with recurrent inflammatory episodes, and aids in family planning and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume3 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Refrigerate at 2-8°C if delayed beyond 48 hours
Avoid repeated freeze-thaw cycles
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient identification

Understanding Your Results

Results from the MEFV Full Gene Analysis indicate the presence or absence of mutations in the MEFV gene associated with Familial Mediterranean Fever.
📊

Positive for pathogenic mutation

Confirms diagnosis of FMF or identifies carrier status. Clinical correlation and genetic counseling recommended.

📊

Negative for pathogenic mutation

FMF is less likely, but clinical suspicion may warrant further evaluation. Does not completely rule out FMF if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist or worsen despite negative results, if there is a family history of FMF, or for guidance on treatment and management.

Limitations

  • ⚠May not detect all possible mutations in the MEFV gene
  • ⚠Clinical correlation is necessary for diagnosis
  • ⚠Does not rule out other genetic or inflammatory conditions
  • ⚠Carrier status may require additional family testing

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Rare risk of infection
  • ●Fainting or dizziness in some individuals

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Improper sample storage

Frequently Asked Questions

What is Familial Mediterranean Fever (FMF)?
FMF is a genetic autoinflammatory disorder causing recurrent episodes of fever, abdominal pain, chest pain, joint pain, and skin rash, primarily affecting people of Mediterranean origin.
What causes FMF?
FMF is caused by mutations in the MEFV gene, which encodes the protein pyrin involved in inflammation regulation. It is inherited in an autosomal recessive pattern.
What are the common symptoms of FMF?
Common symptoms include recurrent fever, severe abdominal pain, chest pain, joint inflammation, and erysipelas-like skin rashes, lasting 1-3 days per episode.
How is FMF diagnosed?
Diagnosis is based on clinical criteria, such as symptom patterns and ethnic background, confirmed by genetic testing like the MEFV Full Gene Analysis.
What is the MEFV Full Gene Analysis?
It is a comprehensive genetic test that sequences the entire MEFV gene to detect mutations associated with FMF, aiding in diagnosis and carrier identification.
How is the test performed?
The test involves collecting a blood sample, which is analyzed using Next-Generation Sequencing (NGS) to identify mutations in the MEFV gene.
What does a positive result mean?
A positive result indicates the presence of pathogenic MEFV mutations, confirming FMF diagnosis or carrier status. Consult a doctor for management and genetic counseling.
What does a negative result mean?
A negative result means no pathogenic mutations were detected, making FMF less likely. However, clinical evaluation is still recommended if symptoms persist.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally not painful.
How long does it take to get results?
Results are typically available within 4-6 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the MEFV Full Gene Analysis?
The test costs INR 36000 at DNA Labs India, with home collection included at no extra charge.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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