Related Experiment Video
Updated: Oct 29, 2026

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets
Published on: November 29, 2024
Inherited Platelet Disorders and Use of Genetic Testing
Irem Eldem1, Jorge A Di Paola1
1Division of Pediatric Hematology and Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Abstract:
Inherited platelet disorders (IPDs) are caused by pathogenic variants in genes responsible for megakaryocyte and platelet biology, leading to qualitative and quantitative platelet defects. Advances in high-throughput sequencing plus variant-curation expertise and detailed clinical evaluation have led to the identification of about 70 genes associated with IPDs and enabled the diagnosis of about half of the IPDs. Genetic testing in clinical settings is becoming more accessible and affordable, while additional gene variants continue to be discovered. Communication of genetic results to families and the implementation of personalized therapies underpin current IPD management.
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