Targeted NGS Panel For Constitutional Cytogenetics Research

Oxford Gene Technology (OGT) has developed a targeted NGS panel for constitutional cytogenetics research. The new CytoSure™ NGS panel—launching early in 2020—is designed to 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 aims to facilitate 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 is designed to 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 our CytoSure NGS panel to meet the increasing desire of labs 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.”