NGS Panel for Constitutional Cytogenetics Launched

Oxford Gene Technology (OGT), A Sysmex Group Company, has launched a transformative next-generation sequencing (NGS) panel for constitutional cytogenetics research. The CytoSure™ Constitutional NGS Panel contains the most up-to-date, hand-curated content for intellectual disability (ID) and developmental delay (DD) research. Delivering accurate and reliable detection of copy number variations (CNVs), single nucleotide variations (SNVs), insertion/deletions (indels) and loss of heterozygosity (LOH) - including in mosaic samples - the panel combines the benefits of NGS and microarrays in one cost-effective assay.

OGT’s CytoSure brand is renowned for excellence in constitutional cytogenetics, with its popular Constitutional v3 microarrays in wide use across major laboratories worldwide. There is a desire within constitutional genetics laboratories to transition to NGS technologies, however it has often been problematic to achieve accurate single-exon CNV and LOH detection on these platforms. OGT’s expertise combined with a long heritage in hybridisation technologies, design and software, has enabled the company to overcome this challenge, producing CNV data quality that is second to none. Data produced from the CytoSure Constitutional NGS panel is of the highest quality and shows excellent concordance with arrays. The intuitive, user-friendly software means there is no need for large bioinformatics teams to work alongside labs for data analysis.

The empirically-optimised CytoSure Constitutional NGS panel, designed in collaboration with leading cytogenetics experts and consortia, targets over 700 genes at the exon level. The panel has been rigorously tested in cytogenetics labs in order to ensure the highest possible performance and confidence in results. Alpha and beta triallists were particularly pleased with the detection capabilities and software ease of use. 

Designed to be run on the Illumina NextSeq™ or NovaSeq™, the CytoSure Constitutional NGS solution includes hybridisation capture baits, a complete library preparation kit (including hyb/wash buffer) and powerful complimentary analysis software for SNV, indel, CNV and LOH interpretation. OGT’s popular, easy-to-use Interpret software delivers confident, dependable data analysis and is a familiar visual platform for cytogeneticists - facilitating an easy transition to NGS.

Available at a similar cost to arrays (but yielding substantially more informative data), the CytoSure Constitutional NGS panel offers a more cost-effective solution than whole exome sequencing, reducing the costs of data storage whilst minimising detection of variants of uncertain significance (VUS) which are often seen as time consuming to analyse.

For more information please visit