Whole genome sequencing (WGS) offers a comprehensive examination that analyzes the entire genome, including coding and non-coding regions, introns, regulatory elements and structural variations. WGS provides a broader perspective in cases where WES cannot establish a diagnosis.
Advantages of WGS in Pediatric Diseases
- Comprehensive analysis: Captures all mutation types, including single nucleotide variants, insertion/deletion mutations, copy number variations (CNV) and structural rearrangements.
- Diagnosis of complex cases: Valuable for diagnosing complex and rare disorders involving non-coding regions or multiple genetic factors.
- Discovery of novel variants: Can identify previously unreported novel genetic variants that may explain undiagnosed conditions.
Test Results and Next Steps
- A pathogenic variant detected by WGS can lead to a definitive diagnosis and enable targeted treatments.
- If no clear pathogenic variant is found, the data can be reanalyzed as new knowledge emerges, or specific targeted tests may be considered.