genpaneler

Genpaneler, or gene panels, are targeted sequencing tests that analyze a predefined set of genes associated with a particular disease or clinical presentation. By focusing on a curated gene list, panel testing aims to provide faster, more affordable and more easily interpretable results than whole-exome or whole-genome sequencing for the chosen indication.

Panels are created using next-generation sequencing technologies, employing either hybridization capture or amplicon-based methods to enrich the chosen genes. The size of panels varies from a few dozen to several hundred genes, depending on the clinical indication and current knowledge. The genes included are selected from clinical guidelines, expert consensus, and recent literature, with ongoing updates as new evidence emerges.

Applications include hereditary cancer panels (BRCA1/2, and others), cardiomyopathies and arrhythmias, developmental and epileptic encephalopathies, immunodeficiencies, and pharmacogenomic panels. Advantages include higher sequencing depth for the included regions, improved variant detection in those genes, faster report turnaround, and lower cost per gene compared with broader sequencing approaches.

Limitations include the possibility of missing pathogenic variants in genes not included or in noncoding regions, inability to detect structural variants unless specifically designed, and incidental findings beyond the panel scope. Variant interpretation often yields variants of uncertain significance. Confirmatory testing and reanalysis over time may be required.

Quality and regulation: in many jurisdictions, genetic testing laboratories performing panels operate under quality standards (eg CLIA/CAP in the United States). Results are reported with clinical interpretation, and genetic counseling is routinely recommended. Panels are dynamic instruments; panels can be updated as knowledge advances.