Atypical hemolytic uremic syndrome panel

Atypical hemolytic uremic syndrome panel
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Atypical hemolytic uremic syndrome panel is a molecular diagnostic test that screens for ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, and THBD genes.

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Hemolytic urenic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia and renal failure secondary to thrombotic microangiopathy (TMA). The most common form of HUS is associated with infection by Shiga toxin-producting E. coli (STEC-HUS, ~90% of cases). Atypical HUS (aHUS) is a rarer form (~10% of cases) of HUS, and is associated with genetic or acquired defects in the regulation of the alternative pathway of the complement system. Specific genetic susceptibility mutations may be identified in up to 60% of affected individuals. Age at onset of aHUS is variable and recurrence of the disease following initial recovery is common. Atypical HUS is a systemic disease, and while at least one-half of patients with aHUS develop permanent renal damage, 20% of patients have extrarenal symptoms that may involve the cardiovascular, gastrointestinal and central nervous systems. Atypical hemolytic uremic syndrome panel is a molecular diagnostic test that screens for ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, and THBD genes.

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