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Mutations in the MEFV Gene (Whole Blood)

Published: August 9, 2026Updated: August 16, 2026

This test checks for genetic changes in the MEFV gene, which is linked to conditions like familial Mediterranean fever (FMF). It involves analyzing DNA from your blood.

Quick summary

["This test helps diagnose genetic conditions that may affect your immune system or cause inflammatory diseases."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
36925-6
Short code
MEFV gene Mut Anl Bld/T
Synonyms
MEFV gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of conditions like familial Mediterranean fever, periodic fever syndromes, or unexplained chronic inflammation. It’s also used for genetic counseling or carrier screening in certain situations.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small sample of whole blood, usually drawn from your arm. This is a standard blood draw, similar to other routine lab tests.

What the Test Results Mean

Results can be positive (mutations detected) or negative (no mutations found). Positive results may indicate an increased risk for certain genetic conditions. Your healthcare provider will discuss the results in the context of your medical history and family history.

Common Conditions Linked to MEFV Gene Mutations

Mutations in the MEFV gene are most strongly associated with familial Mediterranean fever (FMF), an inherited disorder causing recurrent episodes of inflammation. Other conditions, such as certain types of periodic fever syndromes, may also be linked to these mutations.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

MEFV Gene Mutation Test

Frequently asked questions

What does a positive result mean for my health?
A positive result means you have genetic changes in the MEFV gene. This may increase your risk of developing conditions like FMF or other inflammatory disorders. Your healthcare provider will work with you to monitor your health closely and recommend appropriate management strategies, such as lifestyle adjustments or medications if needed.
Can this test be used to predict future health problems?
This test helps identify genetic mutations that may contribute to certain health risks. However, it does not predict future health problems with certainty. Genetic testing is just one piece of the puzzle and should be interpreted alongside clinical findings, symptoms, and family history.
How often should I get this test?
The frequency of testing depends on your medical needs, family history, and healthcare provider’s recommendations. If you have a known family history of MEFV-related conditions, your provider may suggest testing at specific intervals or during pregnancy for carrier screening.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy