Familial Mediterranean Fever
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Familial Mediterranean Fever is characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash. Without treatment to help prevent attacks and complications, a buildup of certain protein deposits in the body's organs and tissues may occur, which can lead to kidney failure.
Specific mutation analysis of the MEFV gene include p.M680I(c.2040G>A), M680I(c.2040G>C), p.M694I, p.M694V and p.V726A.
Individual full gene sequence analysis is also available for this AmbrySCREEN Version2™ disease gene. Click on the gene name below for additional testing options.