CES (Clinical Exome / Next-Generation Diagnostic Panel)
Definition
Instead of the whole exome, this sequencing test focuses on gene regions with a known association with disease. Genetiks' definition:
It examines more than 4,800 gene regions. A gene panel analysis tailored to the request is performed. It is recommended for investigating diseases of unknown cause, diseases with many subtypes, and cases where multiple or large genes are associated with the disease.
Difference from WES: While WES reads all of the ~22,000 genes, CES focuses on ~4,800 gene regions of proven clinical significance.
| CES | WES | |
|---|---|---|
| Coverage | ~4,800 gene regions | ~22,000 genes |
| Advantage | Fewer VUS, more focused interpretation | Broader screening |
| Disadvantage | A variant in a gene outside the coverage is missed | More VUS, more complex interpretation |
Risks and Limitations
A variant in a gene not included in the panel will not be detected. If no diagnosis is reached, WES/WGS can be performed next.