b'Comprehensive pan-ethnic carrier screening research Traditional carrier screening research relies on ethnicity or known family history to guide the disease areas of focus. However, as pan-ethnic and multicultural societies become more prevalent and gene variants become more widespread and less specific, standard predictors of disease risk become less reliable as research tools. NGS boosts carrier screening research by targeting an expansive panel of known variants, to identify and determine carrier status related to a broad range of disease conditions. Findings from expanded carrier screening research provide scientific insights to help families reduce risk for future pregnancies and increase probability for healthy offspring. Ion TorrentCarrierSeqexpanded carrier screening (ECS) kits This single, consolidated NGS assay targets difficult-to-detect variants, due to pseudogenes (GBA and GBAP1 for Gaucher disease), paralogues (SMN1 and SMN2 for spinal muscular atrophy), or targets within a locus (HBA1 and HBA2 for alpha-thalassemia).As an end-to-end solution for simple adoption and implementation in your lab, CarrierSeq ECS kits include reagents for library preparation, template preparation, and sequencing, plus software for data analysis and reporting. Leveraging Ion AmpliSeq technology, these optimized assay kits streamline implementation and help ensure reliable and consistent results.A 420-gene panel targeting the full coding region of all genes enables the analysis of 36,000 nonbenign ClinVar variants for SNVs, indels, and CNVs by NGS.~14,000418 inherited disordersamplicons33 genes with 420 single exonlevel resolutiongenes36,000 SNVs, indels, and CNVs Download ebookCarrierSeq ECS Complete Gene PanelAnalytic verification of a CarrierSeq ECS kit for the Ion GeneStudio S5 System4 thermofisher.com/carrierseq'