High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies

F Bu, NG Borsa, MB Jones, E Takanami… - Journal of the …, 2016 - journals.lww.com
The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a
spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic
thrombocytopenic purpura, C3GN, and dense deposit disease, which share phenotypic
similarities and underlying genetic commonalities. Variants in several genes contribute to
the pathogenesis of these diseases, and identification of these variants may inform the
diagnosis and treatment of affected patients. We have developed and validated a …