Periodic disease (Familial Mediterranean Fever, search for mutations in the MEFV gene)

A hereditary monogenic disease prevalent mainly among certain ethnic groups (Sephardic Jews, Armenians, Arabs). Depending on the predominant manifestations, four clinical variants are distinguished: abdominal, thoracic, articular, and febrile. It is characterized by transient episodes of fever, general inflammatory reaction, arthralgia, synovitis, and pleurisy. Amyloidosis develops in 30-40% of patients, which can lead to renal failure. The cause of periodic disease is point mutations in the MEFV gene, which encodes the protein pyrin participating in the regulation of inflammatory processes. This test allows the detection of pathogenic mutations in exons 2, 3, 5, 10 of the MEFV gene, characteristic of familial Mediterranean fever.

Within 11 days. The specified time does not include the day of biomaterial collection