Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.

ABSTRACT: Inherited platelet disorders (IPDs) are a heterogeneous group of disorders associated with normal or reduced platelet counts and bleeding diatheses of varying severities. The identification of the underlying cause of IPDs is clinically challenging due to the absence of a gold-standard platelet test, and is often based on a clinical presentation and normal values in other hematology assays. As a consequence, a DNA-based approach has a potentially important role in the investigation of these patients. Next-generation sequencing (NGS) technologies are allowing the rapid analysis of genes that have been previously implicated in IPDs or that are known to have a key role in platelet regulation, as well as novel genes that have not been previously implicated in platelet dysfunction. The potential

SUBMITTER: Maclachlan A 

PROVIDER: S-EPMC5359778 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature