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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

Molecular causes of many inherited platelet disorders have been unraveled. Next generation sequencing facilitates diagnosis in 30-50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context of the patient's phenotype. Before detailed testing is initiated, the treating physician and the patient should be aware why testing is performed and should agree on the consequences it may have, especially before testing for variants in genes associated with an increased risk for hematologic malignancies.

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