MEFV Gene Mediterranean fever NGS Genetic Test
Short Name: MEFV Gene NGS Test
Also known as: Familial Mediterranean Fever Genetic Test, FMF Gene Test, MEFV Mutation Analysis, Pyrexin Gene NGS Test, Mediterranean Fever DNA Test
MEFV Gene Mediterranean fever NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatic Analysis and Variant Interpretation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from the date of sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or rule out a diagnosis of Familial Mediterranean Fever by identifying pathogenic or likely pathogenic mutations in the MEFV gene. It enables early diagnosis, appropriate treatment initiation with colchicine, risk assessment for amyloidosis, carrier testing for family members, and genetic counselling for family planning decisions.
- Test Code
- 2161
- CPT Code
- 81479
- ICD Code
- E85.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatic Analysis and Variant Interpretation
Sample Collection
No special preparation or fasting is required. Ensure a detailed clinical history and family pedigree chart are prepared prior to sample collection. A genetic counselling session is recommended before testing.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of venous blood in an EDTA (lavender top) vacutainer using standard venipuncture technique. For FTA card collection, a single drop of blood is placed on the designated area of the card.
Report Delivery
Apply pressure to the venipuncture site with a cotton ball for 3–5 minutes. The sample will be transported under appropriate cold chain conditions to the laboratory. No post-collection restrictions are required.
Timeline: 3 to 4 Weeks from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a diagnosis of Familial Mediterranean Fever by identifying pathogenic or likely pathogenic mutations in the MEFV gene. It enables early diagnosis, appropriate treatment initiation with colchicine, risk assessment for amyloidosis, carrier testing for family members, and genetic counselling for family planning decisions.
How to Prepare
- Collect 3 mL of peripheral venous blood in an EDTA vacutainer (lavender top)
- Alternatively, provide extracted DNA (minimum 50 ng/µL, A260/280 ratio 1.7–2.0) or one drop of blood on an FTA card
- Clearly label the sample with patient name, date of birth, and unique sample ID
- Maintain sample at ambient temperature (15–25°C) during transport; do not freeze whole blood
- Transport sample to the laboratory within 48 hours of collection
- Include the signed test requisition form and clinical history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Familial Mediterranean Fever is frequently underdiagnosed due to symptom overlap with other inflammatory conditions. Genetic testing through NGS provides definitive diagnosis and helps guide long-term management with colchicine therapy. Early diagnosis is critical to prevent amyloidosis-related organ damage, particularly renal amyloidosis, which is the most serious complication of untreated FMF."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient volume blood samples
- Samples without proper labeling or identification
- Samples received without signed requisition form
- Samples transported at improper temperatures or beyond stability window
- Extracted DNA with A260/280 ratio outside 1.5–2.2 range or concentration below 10 ng/µL
Understanding Your Results
Two copies of a pathogenic MEFV variant detected. This result is consistent with a diagnosis of Familial Mediterranean Fever in a symptomatic individual. Clinical correlation is recommended. Initiation of colchicine therapy should be discussed with the treating physician.
Result type: Homozygous Pathogenic Variant
Two different pathogenic MEFV variants detected (one on each allele). This result is consistent with FMF. Phenotype severity may depend on the specific variant combination. Genetic counselling is advised.
Result type: Compound Heterozygous Pathogenic Variants
One pathogenic MEFV variant detected. The individual is a carrier of FMF. Carriers are generally asymptomatic but may occasionally exhibit mild symptoms. Carrier testing of family members is recommended for genetic counselling purposes.
Result type: Heterozygous Pathogenic Variant (Carrier)
A variant in the MEFV gene was detected but its clinical significance is currently unknown. This result alone is not diagnostic of FMF. Clinical correlation, family studies, and periodic reclassification are recommended.
Result type: Variant of Uncertain Significance (VUS)
No known pathogenic variants were identified in the MEFV gene. This result reduces the likelihood of FMF but does not completely exclude it, especially if clinical suspicion remains high. Other genetic or non-genetic causes should be investigated.
Result type: No Pathogenic Variant Detected
Consult a rheumatologist or clinical geneticist if you experience recurrent episodes of unexplained fever, abdominal pain, chest pain, joint swelling, or skin rashes lasting 12–72 hours. Seek immediate medical advice if a positive genetic test result is obtained or if there is a known family history of Familial Mediterranean Fever. Early consultation is essential to prevent complications such as amyloidosis.
Limitations
- ⚠This test detects variants only in the MEFV gene and does not screen for mutations in other autoinflammatory disease genes
- ⚠Deep intronic variants, large copy number variations, or structural rearrangements may not be fully detected by standard NGS
- ⚠A negative result does not completely exclude FMF if clinical suspicion remains high; other genes may be involved
- ⚠Variant of uncertain significance (VUS) results require clinical correlation and may need family segregation studies
- ⚠Test performance may be affected by mosaicism at levels below the analytical sensitivity threshold
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of fainting during blood draw
- ●Psychological impact of genetic test results; genetic counselling is provided to address this
- ●Possibility of incidental findings or variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Highly degraded DNA may reduce sequencing quality and coverage
- ●Recent blood transfusion within the past 4 weeks may affect results due to donor DNA contamination
- ●Hemolyzed or improperly stored blood samples may yield insufficient DNA quality
- ●Concurrent use of certain medications is unlikely to affect genetic test results but should be disclosed
Compare With Similar Tests
| Test | MEFV Gene Mediterranean fever NGS Genetic Test | MEFV Gene Sanger Sequencing | Targeted Mutation Panel for FMF | Whole Exome Sequencing (WES) | C-Reactive Protein (CRP) and ESR Tests |
|---|---|---|---|---|---|
| Comparison | MEFV Gene Mediterranean fever NGS Genetic Test |
Frequently Asked Questions
What is the MEFV Gene Mediterranean Fever NGS Genetic Test?
Who should get the MEFV Gene NGS Genetic Test?
What is Familial Mediterranean Fever (FMF)?
What sample is required for the MEFV Gene NGS Test?
How long does it take to receive the test results?
What is the cost of the MEFV Gene NGS Genetic Test in India?
Is genetic testing necessary even if symptoms of FMF are already present?
Can this test detect if I am a carrier of FMF?
Is the MEFV Gene NGS Test available for children?
What specific mutations does this test screen for?
Do I need a doctor's referral for the MEFV Gene NGS Test?
Does DNA Labs India provide raw genomic data along with the clinical report?
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