Hamostaseologie 2023; 43(04): 244-251
DOI: 10.1055/a-2099-3266
Review Article

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders

Jennifer Gebetsberger*
1   Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
Kristina Mott*
2   Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany
Aline Bernar
1   Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
Eva Klopocki
3   Institute of Human Genetics, University of Würzburg, Würzburg, Germany
Werner Streif
1   Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
2   Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany
4   Center for Rare Blood Cell Disorders, Center for Rare Diseases, University Hospital Würzburg, Würzburg, Germany
› Author Affiliations


Inherited platelet disorders (IPDs) are a heterogeneous group of rare entities caused by molecular divergence in genes relevant for platelet formation and function. A rational diagnostic approach is necessary to counsel and treat patients with IPDs. With the introduction of high-throughput sequencing at the beginning of this millennium, a more accurate diagnosis of IPDs has become available. We discuss advantages and limitations of genetic testing, technical issues, and ethical aspects. Additionally, we provide information on the clinical significance of different classes of variants and how they are correctly reported.


Angeborene Thrombozytenstörungen (IPDs) sind eine heterogene Gruppe seltener Krankheiten, die durch molekulare Divergenz in Genen verursacht werden, die für die Bildung und Funktion von Blutplättchen relevant sind. Ein rationaler diagnostischer Ansatz ist notwendig, um Patienten mit IPDs zu beraten und zu behandeln. Mit der Einführung der Hochdurchsatz-Sequenzierung zu Beginn dieses Jahrtausends ist eine präzisere Diagnose von IPDs möglich geworden. Wir diskutieren Vorteile und Einschränkungen von genetischen Tests, technische Probleme und ethische Aspekte. Zusätzlich bieten wir Informationen über die klinische Bedeutung verschiedener Klassen von Varianten und wie sie korrekt gemeldet werden.

Final Note

All Web links have been tested as active on May 18, 2023. The authors do not take responsibility for future changes of links or their contents.

* J.G. and K.M. contributed equally to this work.

Publication History

Received: 21 March 2023

Accepted: 23 May 2023

Article published online:
23 August 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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