Introduction
- As of June 2025, the American Academy of Pediatrics (AAP) now recommends genome sequencing (GS) or exome sequencing (ES) as a first-tier diagnostic test for global developmental delay (GDD) and intellectual disability (ID).
- Compared to ES, GS captures a broader spectrum of variant types such as short tandem repeat (STR) expansions, mitochondrial genome variants, and noncoding variants.
- However, the extent to which GS impacts the diagnostic yield in children with GDD/ID is incompletely characterized.
