Clinical Utility of Next-Generation Genomic Sequencing in Paediatric Clinical Genetics: A Cohort of 100 Cases
Asia Pacific Congress of Pediatrics 2026 (26-29 July 2026, BMICH, Colombo, Sri Lanka)
July 2026
Liyanaarachchi D.C., Kumara W.T.G.C.R., Sundralingam T., Punchihewa C., Subasinghe V.
- 1. Genelabs Medical (Pvt) Ltd, Sri Lanka
- 2. Lady Ridgeway Hospital for Children, Sri Lanka
Conference Oral Presentation
Summary
A cohort study of 100 paediatric patients undergoing WES/WGS/blended genome-exome sequencing, reaching a phenotype-related molecular diagnosis in 63% of cases and an 84% yield of actionable pathogenic/likely-pathogenic variants - with the highest diagnostic yields in neuromuscular (75%), neurodevelopmental/epileptic (67.6%), and metabolic/endocrine (64.7%) presentations.