Robust panel enables accurate and comprehensive constitutional genetic aberration screening in one assay

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.

Scientists from EGL Genetics, Atlanta, GA, USA commented, “We were impressed by how easy the assay was to run and fit in to our current workflow and there was excellent concordance of calls. It was great to see that the panel was highly targeted for relevant genes, reducing calls from aberrations that would be classified as benign – unlike other high-density arrays and exomes. This helped reduce our analysis time, but didn’t reduce our ability to pick up key findings.”

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.

Fléchère Fortin from Centre Hospitalier Universitaire de Sherbrooke, Quebec, Canada, observed “We have seen complete concordance with samples previously run on arrays, the CNV data really speaks for itself. Interestingly, we are even seeing small deletions less than 500bp not picked up by arrays that could be really informative! The assay was easy to run and the software has some really nice features that will make data analysis quick and easy. As usual the training and support from OGT was outstanding.”

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.

John Anson, CEO of OGT commented, “We’re excited to bring this transformative constitutional NGS panel to market. For those wishing to transition from arrays to NGS there just hasn’t been anything on the market that could yield small CNV and LOH detection results that you could really be confident in. We’re delighted to say that with our expertise in hybridisation chemistry we’ve remedied that and the results speak for themselves. We’ve packaged the panel in a familiar format for all our cytogenetics customers with our Interpret software, making it really easy for labs to make the transition and start getting even more meaningful data from a single assay. We’ve essentially brought all the quality, accuracy, ease of use and reliability you’d expect from our CytoSure brand to an NGS panel designed specifically for constitutional cytogenetics.”

EGL Genetics summarised their experience and thoughts for the future “This assay has real potential to alter how we investigate ID/DD samples, providing an opportunity to replace our current arrays and reduce the number of samples reflexed to exome sequencing.”

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