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Development and Characterization of Reference Materials for Genetic Testing

Published

Author(s)

Justin M. Zook, Marc L. Salit, Lisa V. Kalman, Mickey Williams, Vivekananda Datta, Jin-Yeong Han

Abstract

Characterized reference materials (RM) are needed for test development and validation, quality control procedures and proficiency testing to assure the quality of clinical laboratory tests. In this article, we review the development and characterization of RM for clinical molecular genetic tests. We describe various types of RM as well as how to access and utilize reference materials. This review also suggests the need for collaborative efforts in the clinical genetic testing community to develop additional RM.
Citation
Critical Reviews in Clinical Laboratory Sciences

Keywords

Genomics, Next Generation Sequencing, Reference Materials

Citation

Zook, J. , Salit, M. , Kalman, L. , Williams, M. , Datta, V. and Han, J. (2016), Development and Characterization of Reference Materials for Genetic Testing, Critical Reviews in Clinical Laboratory Sciences, [online], https://doi.org/10.3343/alm.2016.36.6.513 (Accessed October 8, 2025)

Issues

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Created November 1, 2016, Updated January 27, 2020
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