Sponsor: Oxford Gene Technology
The CytoSure Constitutional v3 +LOH array is designed for the comprehensive genetic analysis of developmental delay disorders. These markers will be added alongside the latest content for exon-level copy number variation (CNV) coverage, which constitutes research-validated single nucleotide polymorphism (SNP) probes that facilitate the detection of loss of heterozygosity (LOH), on a single array. The CytoSure array incorporates the most up-to-date array platform for CNV detection currently available, covering 502 targeted genes, with high probe density across the most biologically relevant regions, enabling the detection of single-exon aberrations. The addition of SNP probes on the new array adds a broader range of copy-neutral genetic factors that can be investigated on a single array. Moreover, the SNP probe coverage also functions as an additional validation of CNVs.