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Open Access 01-01-2017 | Review and Perspectives

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

Authors: Zandra C Deans, Jose Luis Costa, Ian Cree, Els Dequeker, Anders Edsjö, Shirley Henderson, Michael Hummel, Marjolijn JL Ligtenberg, Marco Loddo, Jose Carlos Machado, Antonio Marchetti, Katherine Marquis, Joanne Mason, Nicola Normanno, Etienne Rouleau, Ed Schuuring, Keeda-Marie Snelson, Erik Thunnissen, Bastiaan Tops, Gareth Williams, Han van Krieken, Jacqueline A Hall, On behalf of IQN Path ASBL

Published in: Virchows Archiv | Issue 1/2017

Abstract

The clinical demand for mutation detection within multiple genes from a single tumour sample requires molecular diagnostic laboratories to develop rapid, high-throughput, highly sensitive, accurate and parallel testing within tight budget constraints. To meet this demand, many laboratories employ next-generation sequencing (NGS) based on small amplicons. Building on existing publications and general guidance for the clinical use of NGS and learnings from germline testing, the following guidelines establish consensus standards for somatic diagnostic testing, specifically for identifying and reporting mutations in solid tumours. These guidelines cover the testing strategy, implementation of testing within clinical service, sample requirements, data analysis and reporting of results. In conjunction with appropriate staff training and international standards for laboratory testing, these consensus standards for the use of NGS in molecular pathology of solid tumours will assist laboratories in implementing NGS in clinical services.

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Title: Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL
Authors: Zandra C Deans
Jose Luis Costa
Ian Cree
Els Dequeker
Anders Edsjö
Shirley Henderson
Michael Hummel
Marjolijn JL Ligtenberg
Marco Loddo
Jose Carlos Machado
Antonio Marchetti
Katherine Marquis
Joanne Mason
Nicola Normanno
Etienne Rouleau
Ed Schuuring
Keeda-Marie Snelson
Erik Thunnissen
Bastiaan Tops
Gareth Williams
Han van Krieken
Jacqueline A Hall
On behalf of IQN Path ASBL
Publication date: 01-01-2017
Publisher: Springer Berlin Heidelberg
Published in: Virchows Archiv / Issue 1/2017
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-016-2025-7

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Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

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