The assay covers the following 12 MEFV mutations
Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disorder. It is characterized by recurrent, short (usually lasting 2-4 days), self-limiting bouts of fever, accompanied by pain in the abdomen, chest or joints, and sometimes associated with erysipelas-like erythema. The most severe complication is progressive amyloidosis, ultimately leading to renal failure. FMF predominantly affects Turks, Arabs, Armenians and Sephardic Jews, with carrier rates as high as 1:5, but has been observed in lower frequencies throughout the Mediterranean area. The responsible disease gene, designated MEFV, has been mapped to chromosome 16p13, comprises 10 exons and encodes a protein termed marenostrin or pyrin. While a few founder mutations (e.g. M680I, M694V) are observed in the majority of cases, other MEFV mutations are rare, and the various combinations seem to define the severity of the disease phenotype and the risk to develop renal amyloidosis. Owing to the rather nonspecific clinical symptoms, molecular genetic analysis significantly improves early and correct diagnosis of FMF, and allows to commence lifelong prophylactic treatment of affected individuals with colchicine.