WGS (Whole genome sequencing)

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.

"The discovery of the structure of DNA transformed not only biology but also our understanding of what it means to be human."

Francis Crick