Related Experiment Video
Updated: Aug 27, 2025
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Utility of Single-Gene Testing in Cancer Specimens
Mehenaz Hanbazazh1, Diana Morlote2, Alexander C Mackinnon2
1Department of Pathology, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia; Division of Genomic Diagnostics & Bioinformatics, Department of Pathology, University of Alabama at Birmingham, 619 19th Street South, Birmingham, AL 35249-7331, USA.
Abstract:
Molecular testing is now considered the standard of care to screen for disease, confirm the diagnosis, guide management, and use target therapy. Currently, several testing strategies are being used. One of the most common strategies is single-gene testing, which is often conducted for known mutations, such as BRAF in melanoma and EGFR in lung cancer. Subsequently, next-generation sequencing (NGS), which tests many genes simultaneously, was developed using targeted gene panels, whole-exome, or whole-genome sequencing. Ordering the best diagnostic tool and choosing between single-gene testing and NGS depends on several factors. In this review, we discuss different single-gene testing methodologies and the impact of using them in comparison to NGS/multigene panel.
