Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

Autor/inn/en	Ní Ghrálaigh, Fiana; McCarthy, Ellen; Murphy, Daniel N.; Gallagher, Louise; Lopez, Lorna M.
Titel	Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism
Quelle	In: Journal of Autism and Developmental Disorders, 53 (2023) 1, S.484-488 (5 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Ní Ghrálaigh, Fiana)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-021-05417-7
Schlagwörter	Autism Spectrum Disorders; Genetics; Diagnostic Tests; Usability; Evidence + Suchen Sie Ihr Suchwort? Autism; Autismus; Humangenetik; Diagnostic test; Diagnostischer Test; Evidenz
Abstract	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 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01