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Updated: Mar 18, 2026

Analyzing Platelet Subpopulations by Multi-color Flow Cytometry
Published on: June 10, 2025
Genomics of platelet disorders
S K Westbury1, A D Mumford1,2,3
1School of Clinical Sciences, University of Bristol, Bristol, UK.
Abstract:
Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.
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