Ion Torrent™ CarrierSeq™ ECS Kit with Ion 530™ Chips (4 samples/chip)

Ion Torrent™ CarrierSeq™ ECS Kit with Ion 530™ Chips (4 samples/chip)

The Ion Torrent CarrierSeq ECS kits provide all 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.The Ion AmpliSeq CarrierSeq ECS Panel included in the kits enables the detection of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) associated with 418 inherited disorders in a single assay.

Features

• Targeting of all coding regions and intron/exon boundaries of 420 genes implicated in 418 inherited disorders
• 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))
• For use with Carrier Reporter, intuitive data analysis software that quickly translates data into results with customizable analysis and reporting options
• Flexible throughput options—kit formats available for 3, 4, 15, or 16 samples per chip or 6, 8, 30, or 32 samples per run

Contents

• Ion AmpliSeq Library Kit Plus
• Ion 530 Chip Kit
• Ion S5 Chef supplies
• Ion S5 Chef solutions
• Ion 510 & Ion 520 & Ion 530 Chef reagents
• Ion S5 Sequencing solutions
• Ion S5 Sequencing reagents
• Ion AmpliSeq CarrierSeq ECS Panel