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Neurodevelopmental Clues Found in Genetic Test Data for Children With Physical Indications

Investigators at Toronto's Hospital for Sick Children, the University of Toronto, and elsewhere describe neurodevelopmental disorder clues found in genetic tests ordered for children with physical or congenital health indications. The team reviewed results for children evaluated with nearly 1,700 chromosomal microarrays and almost 1,400 next-generation sequencing panels at a tertiary pediatric hospital, uncovering potentially diagnostic pathogenic or likely pathogenic variants linked to autism spectrum disorder, intellectual disability, or other neurodevelopmental conditions in a significant subset of the chromosomal microarray tests or sequencing-based panels. "Results from over 3,000 routine genetic tests ordered for diagnostic clarification of a physical/congenital concern had clinically relevant neurodevelopmental implications for 5 to 10 [percent] of all children tested, and for over half of those with diagnostic results," the authors write.