Document Type
Article
Original Publication Date
2017
Journal/Book/Conference Title
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Volume
141
Issue
6
First Page
787
Last Page
797
DOI of Original Publication
10.5858/arpa.2016-0517-RA
Date of Submission
July 2017
Abstract
Context.-The number of targeted next-generation sequencing (NGS) panels for genetic diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is implemented in a clinical laboratory, appropriate validation studies are needed to determine the performance characteristics of the test.
Objective.-To provide examples of assay design and validation of targeted NGS gene panels for the detection of germline variants associated with inherited disorders.
Data Sources.-The approaches used by 2 clinical laboratories for the development and validation of targeted NGS gene panels are described. Important design and validation considerations are examined.
Conclusions.-Clinical laboratories must validate performance specifications of each test prior to implementation. Test design specifications and validation data are provided, outlining important steps in validation of targeted NGS panels by clinical diagnostic laboratories.
Rights
Copyright © 2017 College of American Pathologists
Is Part Of
VCU Pathology Publications
Comments
Originally published at http://doi.org/10.5858/arpa.2016-0517-RA