Diagnosis of rare bleeding disorders

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.

Automated summary

Rare bleeding disorders have significant morbidity but are often underdiagnosed globally. Advances in genomic testing and specialist laboratory assays have greatly improved the diagnostic capabilities, leading to the discovery of new genetic causes for rare diseases and a better understanding of their underlying molecular pathology.