The FMF 12 Kit is used to detect and identify a panel of twelve genetic mutations in the human Mediterranean fever gene (MEFV). The amplified DNA is tested for the following mutations: E148Q, P369S, F479L, R761H, V726A, M694V, M694I, I692del, M680I G>C, M680I G>A, A744S and K695R.
Familial Mediterranean Fever (FMF) is an autosomal recessive, inflammatory disorder. Its more severe complication is progressive amyloidosis, leading to end-stage renal failure. FMF predominantly affects Turks, Arabs, Armaenians and Sepharadic Jews, with carrier rates reported as high as 1 in 5. It is caused by several mutations within the marenostrin/pyrin-encoding gene MEFV on chromosome 16p13.3, which differently affect the severity of the disease phenotype and the risk of developing renal amyloidosis. Early diagnosis is important so that colchicine therapy may be initiated, which prevents the occurrence of attacks and renal amyloidosis.
| Catalog No | Product name | Tests/kit | Approvals |
| 700103 | FMF-12 | 96 | CE |