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Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

Andreas Greinacher and Julia J. M. Eekels

Abstract

The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context of a patient’s phenotype. Before detailed testing is initiated, the treating physician and patient should establish an understanding of why testing is being performed and discuss potential consequences, especially before testing for variants in genes associated with an increased risk for hematologic malignancies.

  • Submitted January 30, 2019.
  • Accepted February 28, 2019.
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