Whole Exome Sequencing (WES) focuses on sequencing the protein-coding regions of the genome, which comprise about 1-2% of the entire genome but account for approximately 85% of known disease-causing mutations. WES is particularly valuable in diagnosing genetic disorders, especially when the clinical presentation is complex, or when previous genetic tests have been inconclusive.
Advantages of WES in Pediatric Disorders:
- Early Diagnosis: WES enables early identification of genetic mutations, crucial for initiating timely treatment in pediatric patients.
- Targeted Approach: It is highly effective for diagnosing Mendelian disorders where a specific gene is suspected based on the clinical phenotype.
- Cost-Effective: WES is generally more affordable than whole genome sequencing, making it a preferred choice for many clinicians when searching for mutations in coding regions.
Test Outcomes and Next Steps:
- If WES identifies a pathogenic variant, the diagnosis can be confirmed, leading to tailored treatment plans.
- If no significant findings are observed, further testing, such as WGS, may be necessary to explore non-coding regions or structural variants.