Platelet Laboratory Testing: Integration of Molecular Testing and Advanced Methods

Inherited platelet disorders (IPDs) have a diverse spectrum of clinical features, such as bleeding tendencies of varying intensities, and possible extra-organ involvement (ie, syndromic features). The clinical and laboratory diagnosis of IPDs remains challenging primarily due to the absence of highly specific platelet function assays and the overlapping nature of clinical and laboratory characteristics. Recently, genetic testing, using next-generation sequencing, has gradually become pivotal in the laboratory evaluation of patients with suspected IPDs. A comprehensive clinical and laboratory testing strategy, along with phenotype and genotype correlation investigations involving both affected individuals and their relatives, is essential for accurate IPD diagnosis.