Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing

Abstract excerpt

Unlabelled Box •The differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging. •To the ADAMTS13 activity < or >10% was added a next‐generation sequencing (NGS) gene panel. •The ADAMTS13 mutation p.Cys754Arg was frequent in hereditary thrombotic thrombocytopenic purpura. •We identified novel complement gene mutations and this procedure improved our diagnostic strategy. Background The 2 main...

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