Updates in diagnosis of the inherited platelet disorders

To provide a comprehensive update on the current available methodologies and techniques for diagnosis of inherited platelet disorders (IPD).

The contributions of many groups have resulted in the significant progress in the molecular diagnosis of IPD including the identification of many genes responsible for the various phenotypes. The widespread use and availability of next-generation sequencing has brought to the forefront ethical challenges associated with nontargeted sequencing as well as provided us with novel variants to functionally validate. These requirements have driven the development of novel tools for functional assessment of platelets, although none of the novel techniques beyond sequencing have yet taken clinical hold.

Much work is ongoing on functional and molecular assessment of platelet disorders and the incorporation of combined assessments is likely to yield the highest diagnostic results.