Familial Mediteranean Fever (FMF), Most Common Mutations, EDTA Blood Test
Genetic Test Detecting Common FMF Mutations
Disease.
Specialized Tests
Department.
Genetics
TAT.
10 – 20 Days
Sample Type
- EDTA Blood (2X5 mL). Molecular Genetics history Required
What Is A FMF Test?
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder caused by mutations in the MEFV gene, leading to recurrent episodes of fever, abdominal pain, joint inflammation and other symptoms. The FMF Most Common Mutations Test is a genetic test that analyzes a patient’s DNA to identify these mutations, confirming a diagnosis.
This test is performed using EDTA blood, which preserves DNA for accurate analysis. It is recommended for individuals with a family history of FMF or those experiencing unexplained recurrent fevers and inflammation. Early diagnosis is crucial to prevent complications like amyloidosis, a severe condition caused by long-term inflammation.
The test detects the most frequent FMF-associated mutations such as M694V, V726A, M680I and E148Q among others. Identifying these mutations helps doctors confirm FMF, differentiate it from other inflammatory conditions and initiate appropriate treatment, often involving colchicine therapy to prevent attacks.
How is the Test Performed?
Sample Collection
Blood sample is collected from the patient.
Lab Analysis
DNA is extracted from the blood and analyzed using PCR (Polymerase Chain Reaction) or DNA sequencing to detect mutations in the MEFV gene. The lab compares the patient’s gene sequence with known FMF mutations to determine if any pathogenic variants are present.
Turnaround Time
Results are normally available in 10 to 20 days.
What are the symptoms that prompt this test?
Common Symptoms in Adults & Children
- Recurrent high fevers (1-3 days) without infection
- Severe abdominal pain (mimicking appendicitis)
- Chest pain due to pleuritis
- Joint pain & swelling (ankles, knees)
- Skin rashes (erysipelas-like erythema)
- Irritability & refusal to eat during attacks in children
- Delayed growth in children in chronic cases
Symptoms in Elderly
- Atypical presentations, sometimes milder fever episodes
- Higher risk of amyloidosis-related kidney damage
What are Normal Ranges for This Test?
The test is a qualitative test and does not represent a numerical value.
Normal Result (Both Men & Women) – No pathogenic mutations detected in the MEFV gene.
Abnormal Result – Presence of one or two disease-causing mutations (homozygous or heterozygous).
Carrier Status – A single mutation (heterozygous) may not cause FMF but can be passed to children.
** Normal levels are dependent on a number of factors including age, testing method and health condition of patient etc. Result interpretation should be done by a qualified doctor or healthcare professional.**
What Happens if Test Results Show Abnormal Levels?
- Confirmed FMF Diagnosis –The doctor may prescribe colchicine to reduce inflammation and prevent attacks.
- Further Testing –If symptoms persist despite negative results, full MEFV gene sequencing or other autoinflammatory tests may be needed.
- Genetic Counseling –Recommended for family planning if mutations are found.
- Monitoring –Regular check-ups to detect complications like kidney dysfunction.
Additional Information About Familial Mediterranean Fever Test
When to Seek Medical Attention
Consult a physician if you suffer from recurrent fevers, unexplained pain or swellings in any part of the body.
Related Tests
- CRP
- ESR
- SAA
- Kidney Function Tests
Conditions Affecting Results
- Rare MEFV gene mutations not covered by the common mutation panel.
- Recent blood transfusions (may affect DNA quality).
Consulting a geneticist or specialist can help interpret complex or uncertain results.
Why Choose Genex?
State Of The Art Technology
We use advanced technology and equipment to ensure precise and reliable results. Our cutting-edge tools and methodologies guarantee the highest standards of lab testing.
Highly Skilled Team
Our team consists of skilled technicians trained to handle complex hormonal tests with high accuracy. Each member has years of experience & specialized knowledge to every test.
Fast Turnaround Time
Get your results quickly, helping to make timely decisions regarding your health. We understand the importance of prompt information for effective health management.
Patient-Centered Care
Genex Lab prioritizes your comfort and satisfaction throughout the testing process. Our compassionate approach ensures a supportive and reassuring experience for patients.
Frequently Asked Lab Tests
- Lipid Profile
- Liver Function Test
- Kidney Function Test
- Thyroid Profile
- Urine Analysis
- Electrolytes
- Complete Blood Count (CBC)
- CRP
- ESR