Clinical Exome Sequencing (CES) is a targeted form of WES that focuses on a curated list of genes known to be associated with specific clinical conditions. CES is particularly useful for clinicians who have a strong suspicion of a specific genetic disorder or a set of related conditions.
Advantages of CES in Pediatric Disorders:
- Focused Testing: CES offers a more focused approach by analyzing only the genes most likely to be involved in the patient’s condition, reducing the likelihood of incidental findings.
- Faster Turnaround: Because CES is more targeted, it often has a quicker turnaround time compared to WES and WGS.
- Cost-Effective for Specific Diagnoses: CES is more cost-effective than WGS, particularly when a specific diagnosis is strongly suspected.
Test Outcomes and Next Steps:
- Positive CES results can quickly confirm a diagnosis, enabling prompt treatment decisions.
- Negative or inconclusive CES results may require broader testing, such as WES or WGS, for further investigation.