Whole exome sequencing (WES) focuses on sequencing the protein-coding regions of the genome. Although these regions make up only 1 to 2% of the genome, they account for 85% of known disease-causing mutations. WES is especially valuable for diagnosing genetic diseases when the clinical presentation is complex or previous genetic tests have been inconclusive.
Advantages of WES in Pediatric Diseases
- Early diagnosis: Detects mutations in about 20,000 genes in a single test, enabling timely treatment in pediatric patients.
- Targeted approach: Highly effective for diagnosing Mendelian diseases where a specific gene is suspected based on the clinical phenotype.
- Cost-effectiveness: Generally affordable; a good option when a mutation is likely to be found in the coding regions.
Test Results and Next Steps
- If WES detects a pathogenic variant, the diagnosis can be confirmed and tailored treatment plans can be developed accordingly.
- If no significant finding is observed, further tests such as WGS may be needed to examine non-coding regions or structural variants.