Single-gene testing looks at one specific gene, typically used when there’s a clear clinical suspicion pointing to one condition (e.g., testing the CFTR gene for cystic fibrosis).
Panel testing examines a curated group of genes associated with a related set of conditions (e.g., a hereditary breast and ovarian cancer panel covering BRCA1, BRCA2, and other related genes).
Whole exome sequencing (WES) analyzes the protein-coding regions of nearly all genes, useful when the clinical picture doesn’t point to one specific gene or condition.
Whole genome sequencing (WGS) analyzes the entire genome, including non-coding regions, offering the most comprehensive view, though it’s typically reserved for complex or undiagnosed cases due to cost and data complexity.