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A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

Johnson, Ben; Doak, Rachel; Allsup, David; Astwood, Emma; Evans, Gillian; Grimley, Charlotte; James, Beki; Myers, Bethan; Stokley, Simone; Thachil, Jecko; Wilde, Jonathan; Williams, Mike; Makris, Mike; Lowe, Gillian C.; Wallis, Yvonne; Daly, Martina E.; Morgan, Neil V.; the UK GAPP Study Group


Ben Johnson

Rachel Doak

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Dr David Allsup
Senior Lecturer in Haematology and Honorary Consultant

Emma Astwood

Gillian Evans

Charlotte Grimley

Beki James

Bethan Myers

Simone Stokley

Jecko Thachil

Jonathan Wilde

Mike Williams

Mike Makris

Gillian C. Lowe

Yvonne Wallis

Martina E. Daly

Neil V. Morgan

the UK GAPP Study Group


Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK‐GAPP study using whole exome sequencing (WES) identified a pathogenic variant in 19 of 47 (40%) patients of which 71% had variants in genes known to cause IT.

To employ a targeted next‐generation sequencing platform to improve efficiency of diagnostic testing and reduce overall costs.

We have developed an IT‐specific gene panel as a pre‐screen for patients prior to WES using the Agilent SureSelectQXT transposon‐based enrichment system.

Thirty‐one patients were analyzed using the panel‐based sequencing, of which; 10% (3/31) were identified with a classified pathogenic variant, 16% (5/31) were identified with a likely pathogenic variant, 51% (16/31) were identified with variants of unknown significance, and 23% (7/31) were identified with either no variant or a benign variant.

Discussion and Conclusion
Although requiring further clarification of the impact of the genetic variations, the application of an IT‐specific next generation sequencing panel is a viable method of pre‐screening patients for variants in known IT‐causing genes prior to WES. With an added benefit of distinguishing IT from idiopathic thrombocytopenic purpura (ITP) and the potential to identify variants in genes known to have a predisposition to hematological malignancies, it could become a critical step in improving patient clinical management.

Journal Article Type Article
Publication Date 2018-10
Journal Research and Practice in Thrombosis and Haemostasis
Print ISSN 2475-0379
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 2
Issue 4
Pages 640-652
APA6 Citation Johnson, B., Doak, R., Allsup, D., Astwood, E., Evans, G., Grimley, C., …the UK GAPP Study Group, . (2018). A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. Research and Practice in Thrombosis and Haemostasis, 2(4), 640-652.
Keywords Bleeding; Gene mutations; Targeted panel sequencing; Thrombocytopenia
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Copyright Statement
© 2018 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals, Inc on behalf of International Society on Thrombosis and Haemostasis.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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