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Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report.

Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report. Journal of clinical pathology Tung, J. K., Devereaux, K. A., Erdmann, A. L., Schrijver, I., Zehnder, J., Suarez, C. J. 2022

Abstract

Amplicon-based next-generation sequencing (NGS) assays employ highly sensitive, rapid, and cost-effective methods to detect clinically actionable mutations for the diagnosis, prognosis, and treatment of patients with cancer. However, recognition of certain limitations inherent to amplicon-based NGS assays is crucial for the correct interpretation and reporting of variants in the clinical setting. In this report, we illustrate three different potential pitfalls related to amplicon-based NGS assays based on our institutional experience and highlight how the risk of such events can be minimised.

View details for DOI 10.1136/jclinpath-2021-208105

View details for PubMedID 35145018