P144: Evaluating genomic testing approaches and clinical workflow for neurodevelopmental disorders in a single-center cohort
Abstract
Children with developmental delays/intellectual disability/autism spectrum disorders (DD/ID/ASD) represent one of the most common indications for evaluation in the genetics clinic. The American College of Medical Genetics and Genomics (ACMG) and American Academy of Pediatrics (AAP) guidelines now both recommend an exome sequencing (ES)/genome sequencing (GS)-first approach for DD/ID cases. Testing patterns and outcomes were observed in a small cohort to provide insight into service delivery, testing workflow, and diagnostic yield.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103638–103638
- Publication date
- 1 January 2026
- Language
- EN