NGSpanelen

NGSpanelen are targeted sequencing tests that use next-generation sequencing to analyze a predefined panel of genes associated with specific diseases. They provide high coverage of selected regions to detect variants relevant to the condition being tested.

The workflow typically includes sample collection, DNA extraction, library preparation, target enrichment, sequencing, and bioinformatic analysis to call and annotate variants. Results are interpreted by clinical geneticists using established guidelines, such as ACMG/AMP criteria, and a report is prepared that outlines clinical significance, limitations, and recommendations. In many cases, findings may be confirmed with orthogonal methods, such as Sanger sequencing, before clinical action is taken.

NGSpanelen are used across several clinical areas. They include hereditary cancer predisposition panels (for example, BRCA1/2 and other mismatch repair or DNA repair genes), cardiovascular panels for cardiomyopathies and arrhythmias, and panels for neurology and neurodevelopmental disorders, epilepsy, neuromuscular conditions, and certain immune or autoinflammatory diseases. They are also used for pharmacogenomics in some settings. The results can influence diagnosis, surveillance strategies, treatment decisions, and familial risk assessment.

Advantages of NGSpanelen include deep coverage of selected genes, relatively rapid turnaround, and lower cost compared with broader sequencing approaches when the clinical question is well defined. Limitations include potential gaps outside the targeted regions, variable performance for detecting copy number variants, and the possibility of identifying variants of uncertain significance or incidental findings. Proper genetic counseling and data privacy considerations are essential, and labs typically follow validation and quality standards set by regulatory bodies and professional guidelines.