Article
Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.
Journal of autism and developmental disorders - 1 Jan 2023
Ní Ghrálaigh Fiana, McCarthy Ellen, Murphy Daniel N, Gallagher Louise, Lopez Lorna M
Abstract excerpt
Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from...
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