Genome-wide sequencing (GWS) includes whole exome (WES) and whole genome sequencing (WGS). This type of analysis provides broad detection and evaluation of genetic variants. WES and WGS are currently the most comprehensive genetic tests available and are used to identify underlying genetic causes for conditions where traditional approaches have failed to find a diagnosis.

GWS can be offered to eligible patients suspected of having a genetic disorder. Obtaining a genetic diagnosis can improve patient health and family well-being by enabling informed care/treatment, providing emotional relief and closure, allowing for accurate recurrence risk counselling, and ending a diagnostic odyssey.