Atypical Hemolytic Uremic Syndromes Panel

Atypical hemolytic uremic syndrome (aHUS) is an extremely rare disease characterized by low levels of circulating red blood cells due to their destruction (hemolytic anemia), low platelet count (thrombocytopenia) due to their consumption, and inability of the kidneys to process waste products from the blood and excrete them into the urine, a condition known as uremia. The signs and symptoms of aHUS result from the formation of tiny blood clots (microthrombi) in various small blood vessels of the body. These clots reduce or prevent proper blood flow to various organs of the body, especially the kidneys.  aHUS may become chronic, and affected individuals may experience repeated episodes of the disorder and are much more likely to develop serious complications such as severe hypertension and kidney failure. aHUS is a complex disorder and multiple factors, including certain genetic, environmental and immunologic factors play a role in its development. Most cases of aHUS are associated with pathogenic variants in genes that encode proteins involved in the alternate pathway of complement, which is part of the complement system of the innate immune system. This panel includes sequence and deletion/duplication analysis of all the listed genes.