OGT Releases Targeted NGS Panel to Study SNV and CNV in Familial Hypercholesterolemia

           Oxford Gene Technology (OGT), The Molecular Genetics Company, has expanded its customisable SureSeq(TM) NGS panel range with the launch of the SureSeq myPanel(TM) NGS Custom FH Panel - allowing fast and cost-effective study of variants in familial hypercholesterolemia (FH). The panel delivers single nucleotide variation (SNV) and copy number variation (CNV) detection on a single small panel and allows customisation by 'mix and match' of fully-optimised gene and hotspot content. This includes all exons for LDLR, PCSK9, APOB, LDLRAP1, APOE, LIPA and STAP1 and a further 14 SNPs. This enables researchers to selectively sequence relevant regions, increasing throughput and saving on reagents.
         

          FH is characterised by high LDL levels leading to early-onset coronary artery disease - treatable with statins. It is well characterised at the molecular level with various genes and multiple point mutations described. Analysis of mutations by multiple PCR or Sanger sequencing is often time-consuming. Around 5-10% of mutations are due to CNVs, requiring further detection by Multiplex Ligation-dependent Probe Amplification (MLPA). In order to streamline detection, OGT's FH panel enables sequencing of all relevant gene regions in one assay. In addition, hybridisation-based enrichment delivers unparalleled completeness and uniformity of coverage, removing the need for supplementary fill-in Sanger sequencing. Detection of CNVs has shown complete concordance with microarray results (the gold standard for CNV detection) in all samples tested by OGT. This means that researchers can analyse CNVs with confidence, removing the need for additional MLPA testing. OGT has  customisable CytoSure(TM) microarrays for downstream CNV confirmation.

          OGT EVP Marketing, Emma Shipstone, added: "Being able to confidently detect SNVs and CNVs on one panel is a big step forward. Our hybridisation methodology and bait design expertise make this possible by ensuring our panels deliver outstanding completeness and uniformity of coverage. Areas of CNV can be easily identified within each sample - delivering an increased understanding of the sample more rapidly and cost-effectively for our customers."

          To find out more, please visit http://www.ogt.com/FH .

          SureSeq(TM): For Research Use Only; Not for Use in Diagnostic Procedures.