CAP TODAY Pathology/Laboratory Medicine/Laboratory Management
July 27, 2020—In a recent NPJ Genomic Medicine paper (Jezkova J, et al. 2020;5:28), Oxford Gene Technology’s CytoSure Constitutional v3 array design has been shown to significantly improve reporting rate and been proven as a powerful tool for detection of small pathogenic intragenic deletions and duplications in developmental disorder research. The paper was led by a consortium of National Health Service genomic medicine centers in the U.K. and compared the enhanced exon-level gene coverage of the v3 array with a conventional array design.
The study consisted of a cohort of 27,756 patient samples that were investigated with either OGT’s exon targeted CytoSure Constitutional v3 array, based on up-to-date content from the Deciphering Developmental Disorders study and Clinical Genome Resource, or a conventional array design based on content from the International Standards for Cytogenomic Arrays consortium with a large number of backbone probes and gene coverage based on an earlier version developmental delay and intellectual disability databases.