Familial Mediterranean Fever (FMF) 12 Mutations, By PCR, Blood

Familial Mediterranean fever (FMF), or recurrent polyserositis, is a recessively inherited disorder characterised by recurrent episodes of unprovoked inflammation involving the joints, the pleural and peritoneal cavities, and, less frequently, the skin. The most common manifestation of this disease, peritonitis, may resemble acute abdomenal pain with an inflamed peritoneum and a neutrophilic exudates. The gene responsible for FMF is designated MEFV. Several missense mutations were identified, accounting for a large percentage of patients with FMF mainly, Sephardic Jews, Turks, Armenians, and Arabs.

This test is used in the diagnosis of FMF. There are population specific mutations i.e. affecting either Arabs, Jews, Turks, or Armenians as well as mutations common to all populations.

2 ml EDTA Whole blood Room Temperature

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.

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