Clinical exome sequencing (CES) is a more limited form of WES that targets a list of genes known to be associated with specific clinical conditions. It is useful when a genetic disorder or related condition is strongly suspected.
Advantages of CES in Pediatric Diseases
- Targeted: Analyzes the genes most relevant to the patient's condition, reducing the likelihood of incidental findings.
- Fast results: Being more targeted, it delivers results faster than WES and WGS.
- Cost-effectiveness for specific diagnoses: It is more affordable.
Test Results and Next Steps
- Positive CES results quickly confirm a diagnosis, enabling prompt treatment decisions.
- Negative or inconclusive CES findings may require the broader tests WES or WGS.