Diagnosis of rare bleeding disorders

Abstract

Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.

Keywords: blood coagulation disorders; blood platelet disorders; hemorrhagic disorders; whole exome sequencing; whole genome sequencing.