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pISSN 2950-9114 eISSN 2950-9122
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Original Article

Lab Med Qual Assur 2020; 42(1): 48-53

Published online March 31, 2020


Copyright © Korean Association of External Quality Assessment Service.

Three-Year Experience of an External Proficiency Testing Survey for Next-Generation Sequencing-Based Testing for Germline Mutation

Moon-Woo Seong1,2, Manjin Kim1, Ho-Seob Shin2, Sung Im Cho1, and Sung Sup Park1

1Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine; 2Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea

Correspondence to:Moon-Woo Seong
Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel +82-2-2072-4180 Fax +82-2-747-0359 E-mail mwseong@snu.ac.kr

Received: December 18, 2019; Revised: January 8, 2020; Accepted: January 22, 2020

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background: Next-generation sequencing is a powerful technology that allows simultaneous analysis of several genes but also demands a well-designed quality management system owing to its complexity. We aimed to analyze the results of next-generation sequencing (NGS)-germline proficiency testing (PT) survey performed by the Korean Association of External Quality Assessment Service during 2017–2019 to assess the current status of the NGS-based genetic testing in Korea.
Methods: The recent 3-year results from the PT survey were investigated. During this period, PT survey was performed twice every year with two or three challenges per round. Correct results (%) were calculated from all tested regions; the trend by year and variation type was analyzed and the probable causes estimated.
Results: During this period, the number of participating laboratories increased from 5 to 22. The correct results were 97.2% in average and showed a gradual increase with year. The most common ‘unacceptable’ results were false-negative or false-positive, followed by inappropriate nomenclature and zygosity assignment.
Conclusions: The PT survey shows that the overall performance of NGS laboratories in Korea is highly confident, although some improvements may be needed. A method-based PT survey for the NGS test serves as a useful approach to assess the performance of NGS laboratories.

Keywords: Next-generation sequencing, Proficiency test, Method-based proficiency test

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