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.
Keywords: Automated assay; Molecular; NGS; PCR; Sanger; Single-gene testing.
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