Genetic Testing for Global Developmental Delay in Early Childhood (Posted Jun 06, 2024 2PM)

From the article: "What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings: In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was identified when using trio whole exome sequencing combined with copy number variation sequencing. A thorough analysis expanded the scope of indications for genetic testing, and the pathogenesis of GDD was further elucidated using a bioinformatics approach. Meaning: These findings suggest that early use of combined genetic testing for GDD may diminish the misdiagnosis rate, elucidate the etiologic diagnosis, and lay the groundwork for identifying novel early diagnostic biomarkers and intervention targets. " https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=rch&query=home