FMF and MEFV Assessment
FMF / MEFV Genetic Testing
MEFV testing for familial Mediterranean fever, interpreted alongside clinical findings.
When is MEFV testing considered?
Genetic assessment may be considered for recurrent fever with abdominal, chest or joint pain, a family diagnosis of FMF or a known MEFV variant. A clinician determines whether testing is appropriate and its scope alongside clinical findings.
MEFV testing options at ECEGEN
| Test option | Scope and catalogue |
|---|---|
| MEFV targeted region / mutation analysis | Investigates specific variants. View the EC-FMF test entry. |
| MEFV sequencing | Investigates sequence changes in the gene regions examined. View the EC-MEFV test entry. |
These tests have different scopes. The method, regions examined and limitations are assessed in the test report; the appropriate option is selected during medical genetics consultation.
Consultation and assessment process
- Bring previous test results, your history of attacks and any relatives’ genetic reports to the consultation.
- The test is selected following clinical assessment; confirm the sample type, acceptance requirements and current turnaround time with our centre.
- Results are interpreted alongside clinical information; genetic counselling for family assessment and follow-up is arranged when needed.
How are results interpreted?
A negative result alone does not rule out FMF. Not every detected variant causes disease; a variant of uncertain significance alone does not establish a diagnosis. Findings are assessed alongside symptoms and family history.
Disease information and genetic counselling
Read our FMF information guide for symptoms, inheritance, treatment and frequently asked questions. Our genetic counselling service can provide information about family-specific risks.
Would you like to get information about this service or request a test?