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

Comments

Originally published at http://doi.org/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

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