The Ion AmpliSeq CarrierSeq ECS Panel enables detection of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) associated with 418 inherited disorders in a single assay. It is included in the Ion Torrent CarrierSeq ECS kits, which provide all of the reagents and materials necessary for a comprehensive, seamless, and flexible next-generation sequencing (NGS) workflow for expanded carrier screening (ECS). When used with an Ion GeneStudio S5 System, the kits enable a simple, end-to-end workflow for the detection of carrier-positive samples by research labs interested in maximizing the identification of carrier status using genomic DNA isolated from blood or saliva samples.

Benefits of the Ion AmpliSeq CarrierSeq ECS Panel include:
• Targeting of all coding regions and intron/exon boundaries of 420 genes implicated in 418 inherited disorders
• Increased carrier status detection rate through genotyping of SNV, indel, and CNV carrier status by NGS
• Incorporation into a single NGS assay difficult-to-characterize genes due to homology as a result of paralogues (spinal muscular atrophy (SMN1 and SMN2)), pseudogenes (Gaucher disease (GBA and GBAP1)), 21-hydroxylase deficient congenital adrenal hyperplasia (CYP21A2 and CYP21A1P), and loci (alpha-thalassemia (HBA1 and HBA2))

Comprehensive content and consolidated assays
The Ion AmpliSeq CarrierSeq ECS Panel provides comprehensive coverage of common and rare variants to help achieve higher per-disorder detection rate. The panel targets >14,000 amplicons that cover all coding regions of 420 target genes, including intron/exon boundaries, to genotype more than 28,000 SNVs and indels from the ClinVar archive of human variation. The panel also provides robust targeting for CNV analysis to maximize carrier status detection.
vGenetic variants for a number of most prevalent yet serious disorders can be difficult to resolve by NGS assays, and so separate additional stand-alone tests are often required. The Ion AmpliSeq CarrierSeq ECS Panel consolidates such stand-alone assays into a single assay, including difficult-to-sequence genes, such as SMN1 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia.