P663: Early experiences of a commercial laboratory with ultra-rapid genome sequencing: Insights from 100 cases

Genetics in Medicine Open 2026 Open access

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Authors: Melanie Napier, Sarah R. Poll, Jackie Cruickshank, Jean M. Macklaim, Britt A. Johnson, Krystal L. Brown, Rebekah Zimmerman, Bobbi McGivern
DOI: 10.1016/j.gimo.2026.104153
Cited by: 0

Abstract

Genome sequencing (GS) is beneficial for diagnosis, management and cost savings in critically ill infants in the neonatal intensive care unit (NICU). In addition, rapid and ultra-rapid GS (URGS) outperform standard GS in both clinical management impact and cost savings. While rapid GS has been clinically available for over ten years, URGS is relatively new, offering potential for even faster turnaround times for the most critically ill individuals. Here, we describe a single clinical diagnostic laboratory’s early experience with URGS.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Genomics and Phylogenetic Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104153–104153
Publication date
1 January 2026
Language
EN