Also known as: Familial Mediterranean Fever Screen« Back to test list
Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene. Mutations in the MEFV gene result in an inappropriate or prolonged inflammatory response, leading to fever and pain.
FMF is almost always inherited in an autosomal recessive pattern. Mutations in exons 2, 3 and 10 of the MEFV gene account for 70-90% of FMF disease-causing variants. FMF primarily affects populations originating in the Mediterranean region (particularly people of Armenian, Arab, Turkish, or Jewish ancestry) and is uncommon in other populations. This test result has diagnostic implications.
In an affected person, the identification of one mutation in the MEFV gene is suggestive of a diagnosis of FMF. The identification of two mutations is diagnostic. The absence of mutations makes it unlikely that the patient has FMF.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
Analysis exons 2 and 10 of the MEFV gene. Sequencing of other exons of the MEFV gene can be arranged on request.
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.