Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: Proof-of-principle with Hermansky-Pudlak syndrome

摘要

Although many thromboplastin manufacturers provide International Sensitivity Index (ISI) values for specific combinations of reagent and instrumentation, it is recommended practice that laboratories check or locally validate these ISI values [1,2]. If a manufacturer does not provide an ISI, the laboratory needs to determine its own local value. Current recommendations suggest the use of reference plasma calibration sets, but there is limited information to validate their reliability in laboratory practice.