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Semin Thromb Hemost 2019; 45(07): 685-694
DOI: 10.1055/s-0039-1687888
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

Andrew D. Mumford
1   School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom
,
Sarah K. Westbury
1   School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom
› Author Affiliations
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Publication History

Publication Date:
30 April 2019 (online)

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Abstract

Recent advances in genetic analysis are bringing huge benefits to patients with rare genetic disorders, including those with inherited disorders of platelet number and function. Modern clinical hematological practice now has a range of genetic techniques available to enable the precision diagnosis of inherited platelet disorders (IPDs). There are some features of this disparate group of inherited disorders that present specific challenges to establishing an accurate genetic diagnosis. This review aims to introduce the techniques that are relevant for the genetic diagnosis of IPDs and will discuss the key considerations necessary for their application to the clinic.

Keywords

platelets - genetics - diagnosis - high-throughput sequencing
 

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