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

Advancements in genomic testing and specialist laboratory assays have greatly improved the diagnostic accuracy of rare bleeding disorders, leading to the discovery of new genetic causes and a better understanding of the underlying molecular pathology.