Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is a severe genetic disease that presents as a systemic thrombotic microangiopathy (TMA); patients typically exhibit non-immune hemolytic anemia, thrombocytopenia and organ dysfunction, and most often, renal disease. Sequence analysis of the genes associated with aHUS is useful to confirm diagnosis, assess familial risk, and direct potential therapeutic decisions.
Streamlined evaluation to guide treatment decisions without delay.
By adding thorough analysis of complement and regulatory genes relevant in aHUS and DDD to our current panel of genetic and plasma-based assays of ADAMTS13, we are able to offer a comprehensive laboratory panel for the evaluation of patients with TMA. This panel provides a comprehensive genetic analysis of patients with TMA with a turnaround time of 28 days. Rapid definitive diagnosis of these patients would enable physicians to accelerate the start of definitive treatment and enable improvement in patient care.
All Related Tests
1200
aHUS/DDD Genetic Evaluation
This panel is designed to detect germline variants in CFH, CFI, CD46, THBD, C4BPA, C4BPB, CFB, C3, DGKE, ADAMTS13, CFHR1, CFHR3, CFHR4 and CFHR5 by sequencing analysis. In addition, MLPA analysis of select exons of CFH, CFHR1, CFHR3, CFHR4 and CFHR5 is performed concurrently. This is a laboratory developed test (LDT).