P577: Retrospective review of pediatric inpatient rapid exome/genome testing at UNC Health in Chapel Hill

Genetics in Medicine Open 2026 Open access

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Authors: Tam P. Sneddon, Kelly A. Rafferty, Monika Williams, Cynthia M. Powell, Michael Adams
DOI: 10.1016/j.gimo.2026.104068
Cited by: 0

Abstract

Rapid exome and genome sequencing (rES/rGS) is increasingly used as a first-tier diagnostic test for critically ill infants and children with suspected but unknown genetic disorders. This retrospective quality improvement study aimed to investigate the molecular diagnostic yield of rES/rGS testing in the pediatric inpatient population at UNC Health in Chapel Hill between May 2022 and November 2025, with the goal to provide informed institutional rES/rGS testing workflow recommendations.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Connective tissue disorders research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104068–104068
Publication date
1 January 2026
Language
EN