Ion Torrent™ Ion AmpliSeq™ CarrierSeq™ ECS Panel, 96

Ion Torrent™ Ion AmpliSeq™ CarrierSeq™ ECS Panel, 96

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.

Features

• 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))

Contents

• 5X Ion AmpliSeq™ HiFi Mix (red cap), 480 µl
• FuPa Reagent (brown cap), 192 µl
• Switch Solution (yellow cap), 384 µl
• DNA Ligase (blue cap), 192 µl
• 25X Library Amp Primers (pink cap), 192 µl
• 1X Library Amp Mix (black cap), 4 x 1.2 mL
• Low TE, 2 x 6 mL