Testing for Atypical Hemolytic Uremic Syndrome Goes NexGen

A patent pending genomic technique that rapidly sequences 12 genes associated with complement-mediated atypical hemolytic uremic syndrome (aHUS) is now being used to diagnose this rare disorder.

Atypical hemolytic uremic syndrome (aHUS) is a very rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it is caused by chronic, uncontrolled activation of the complement system. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to stroke, heart attack, kidney failure, and death. The complement system activation may be due to mutations in the complement regulatory proteins (factor H, factor I, or membrane cofactor protein), or is occasionally due to acquired neutralizing autoantibody inhibitors of these complement system components, for example, anti-factor H antibodies. Despite the use of supportive care, historically an estimated 33%–40% of patients died or developed end-stage renal disease (ESRD) with the first clinical bout of aHUS. Including subsequent relapses, a total approximately two-thirds (65%) of patients died, required dialysis, or had permanent renal damage within the first year after diagnosis despite plasma exchange or plasma infusion therapy. aHUS is not the only condition that causes systemic TMA, a fact that makes differential diagnosis essential.

The clinical reference laboratory Machaon Diagnostics (Oakland, CA, USA), which specializes in the diagnosis, treatment and monitoring of hemostatic and thrombotic conditions, can now provide results of its "aHUS Genetic Panel" within in 48 hours. This turnaround time is remarkably better than other diagnostic approaches that require 4 to 13 weeks.

Machaon Diagnostics employs a patent pending NexGen sequencing technique to rapidly sequence 12 genes that have been associated with complement-mediated TMAs. This panel includes CFH, MCP (CD46), CFI, C3, CFB, CFHR1, CFHR3, CFHR4, CFHR5, thrombomodulin (THBD), plasminogen (PLG), and DGKE. The test detects over 150 known or suspected mutations, deletions and polymorphisms previously reported as associated with aHUS.

"We believe the ability to confirm aHUS through our aHUS Genetic Panel will significantly impact how this disease is treated and has far reaching implications. This is a game-changer. There are going to be tangible and positive impacts for these patients in hospitals, university medical centers, and transplant centers both in the United States and beyond," said Mike Ero CEO of Machaon Diagnostics. "This kind of turnaround time is unheard of and sets the bar very high."

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