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

Jennifer Gebetsberger; Kristina Mott; Aline Bernar; Eva Klopocki; Werner Streif; Harald Schulze

doi:10.1055/a-2099-3266

Hämostaseologie, Inhaltsverzeichnis

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

Authors

Jennifer Gebetsberger‡^*

¹Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
Kristina Mott ‡^*

²Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany
Aline Bernar

¹Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
Eva Klopocki

³Institute of Human Genetics, University of Würzburg, Würzburg, Germany
Werner Streif

¹Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Tirol, Austria
Harald Schulze

²Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany

⁴Center for Rare Blood Cell Disorders, Center for Rare Diseases, University Hospital Würzburg, Würzburg, Germany

Abstract

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.

Zusammenfassung

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.

Keywords

blood platelet disorders - high-throughput nucleotide sequencing - platelets

Schlüsselwörter

angeborene Thrombozytenstörung - Hochdurchsatzsequenzierung - Thrombozyten - Blutplättchen

Volltext

Referenzen

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