Clinical evaluation identifies genetic causes in platelet disorders, highlighting the need for advanced testing.
Due to the limitations of the Sanger method, the molecular defect could only be defined in approximately 30% of cases. In the remaining 70% of patients, the genetic cause remained unidentified, highlighting the need for further evaluation using an extended NGS panel targeting genes associated with inherited thrombocytopenias.
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Ferrari et al. (2026) studied this question.
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