Whole Genome Sequencing (WGS) offers a comprehensive analysis by sequencing the entire genome, including coding and non-coding regions, introns, regulatory elements, and structural variations. WGS provides a broader view and is particularly useful in cases where WES does not yield a diagnosis.
Advantages of WGS in Pediatric Disorders:
- Comprehensive Analysis: WGS captures all types of genetic mutations, including single nucleotide variants, insertions, deletions, copy number variations (CNVs), and structural rearrangements.
- Diagnosis of Complex Cases: WGS is invaluable for diagnosing complex and rare disorders that may involve non-coding regions or multiple genetic factors.
- Discovery of Novel Variants: WGS can identify previously unreported or novel genetic variants that may explain undiagnosed conditions.
Test Outcomes and Next Steps:
- A pathogenic variant identified through WGS can lead to a definitive diagnosis and guide targeted therapies.
- If no clear pathogenic variant is found, the data can be re-analyzed as new knowledge emerges, or specific targeted tests can be considered.