Transformative constitutional next-generation sequencing panel developed

Oxford Gene Technology (OGT), a Sysmex Group company, has developed a breakthrough targeted next-generation sequencing (NGS) panel for constitutional cytogenetics research. The new CytoSure NGS panel – to be launched early in 2020 – will combine the strengths of microarrays and NGS to deliver a comprehensive all-in-one assay.

The new panel, in conjunction with OGT’s popular Interpret analysis software facilitates the accurate and confident detection of loss of heterozygosity (LOH), mosaicism and copy number variants (CNVs), in addition to those more traditionally assayed by NGS, single nucleotide variants (SNVs) and insertions/deletions (indels).

Featuring the most up-to-date content for intellectual disability (ID) and developmental delay (DD), the new targeted NGS panel and Interpret software enable users to detect even small (single exon) CNVs accurately — something that is has been challenging with NGS, and hence a major step forward for the technology.

Emma Shipstone (EVP, Marketing at OGT) commented: “We have developed the CytoSure NGS panel to meet the increasing desire of laboratories to transition from microarrays to NGS and obtain as much information as possible from a single assay. NGS technologies have traditionally struggled with CNV detection, but thanks to OGT’s panel design expertise and advanced software algorithms, we have overcome these challenges, delivering exceptional CNV data that exhibit excellent concordance with arrays. The results are very easy to interpret, with our highly intuitive software allowing a seamless transition to NGS for ID/DD analysis, in what has historically been the domain of the array. Ahead of launch early next year, our early access collaborators are telling us that the data quality speaks for itself and more than meets their requirements.”