FMF screen
Also known as: Familial Mediterranean fever screen, MEFV
Test category:
Familial - Periodic fever; Immunology - Periodic fever
Use of test
Purpose:
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.
Utility:
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.
Ethical considerations:
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. Use of the Sonic Genetics consent form (below) is not mandated, but could be used to guide the discussion with the patient.
In the case of carrier testing of an unaffected child, national regulations require that the laboratory has evidence of pre-test counselling by a genetics professional and written consent.
Consent form:
Download the Sonic Genetics consent form.
Methodology:
Analysis exons 2 and 10 of the MEFV gene. Sequencing of other exons of the MEFV gene can be arranged on request.
Requesting the test
Ordering:
This test can be requested by any medical practitioner.
Sample required:
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
>Link to Sonic Healthcare collection centres
Special instructions:
Consider tests for other periodic fever syndromes such as TRAPS screen.
Turnaround time:
10 business days.
Price:
$273.
Rebate:
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.