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Atypical hemolytic uremic syndrome (aHUS) is a life-threatening, progressive, genetic disease currently diagnosed clinically by excluding other diseases. 50% of patients diagnosed with aHUS will die, develop end-stage renal disease (ESRD) or suffer permanent kidney injury within the 1 year of diagnosis despite plasma exchange (PE) or plasma infusion (PI) therapy. aHUS most frequently occurs following some triggering event (transplantation, pregnancy, malignant hypertension, autoimmune disorders, sepsis, malignancy, others) revealing a defect in the complement regulatory system. aHUS presents with clinical features nearly identical to thrombotic thrombocytopenic purpura (TTP) and HUS, making immediate laboratory differentiation essential.

Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening disease where an underlying immune defect and/or triggering event initiates excessive activation of immune cells (macrophages and lymphocytes) leading to multi-organ dysfunction and failure. Treatment of HLH may vary depending on the underlying cause, including whether a genetic cause is detected. Timely diagnosis has been a major challenge, with patients having to start aggressive therapies or be admitted to the ICU before final diagnostic results are available. Note: this is the third time (3.0 name designation) we have updated the gene list to reflect the most current understanding of HLH in the scientific literature.