Targeted Gene Panels

Overview:

Targeted sequencing panels restrict analysis to a curated set of genes or genomic regions of interest providing very deep coverage (300x to >1000x). They are typically performed using Illumina short-read sequencing, with hybridization-based or amplicon-based enrichment depending on panel design. DNA input requirements are low (as little as 1–10 ng for PCR-based kits), enabling use with FFPE samples or low-yield biopsies. Targeted panels maximize sensitivity for low-frequency variants, making them highly suitable for oncology diagnostics, hereditary disease testing, actionable clinical genomics, and rapid profiling of known pathogenic loci. Panels offer excellent reproducibility and fast turnaround times, but are inherently limited to predefined genomic regions, preventing discovery of novel loci outside the panel. They remain optimal for focused, high-confidence variant detection and clinical decision support.

Workflow:

DNA extraction, library preparation, hybridization-based target capture or amplicon enrichment, sequencing.