Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases

被引：20

作者：

Santani, Avni ^{[1
,2
]}

Murrell, Jill ^{[2
]}

Funke, Birgit ^{[3
,4
]}

Yu, Zhenming ^{[2
]}

Hegde, Madhuri ^{[5
]}

Mao, Rong ^{[6
]}

Ferreira-Gonzalez, Andrea ^{[8
]}

Voelkerding, Karl V. ^{[7
,9
]}

Weck, Karen E. ^{[10
,11
]}

机构：

[1] Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA

[3] MGH Harvard Med Sch, Dept Pathol, Boston, MA USA

[4] Lab Mol Med Partners HealthCare Personalized Med, Cambridge, MA USA

[5] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

[6] Univ Utah, Sch Med, Dept Pathol, ARUP Labs,Inst Clin & Expt Pathol, Salt Lake City, UT USA

[7] Univ Utah, Dept Pathol, Sch Med, Salt Lake City, UT USA

[8] Virginia Commonwealth Univ, Dept Pathol, Div Mol Diagnost, Richmond, VA USA

[9] ARUP Labs, Genom & Bioinformat, Salt Lake City, UT USA

[10] Univ N Carolina, Dept Pathol, Chapel Hill, NC USA

[11] Univ N Carolina, Lab Med & Genet, Chapel Hill, NC USA

来源：

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE | 2017年 / 141卷 / 06期

关键词：

LABORATORY STANDARDS; MOLECULAR PATHOLOGY; CLINICAL GENOMICS; GUIDELINES; MANAGEMENT; RESOURCE; COLLEGE; QUALITY; TESTS; SNP;

D O I：

10.5858/arpa.2016-0517-RA

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：787 / 797

页数：11

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