Carrier Screening Solution

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.

The CarrierMax FMR1 Reagent Kit is used to detect the number of CGG repeats in the Fragile X Mental Retardation (FMR1) gene. This kit uses a dual PCR system combining full length and triplet primed PCR amplification (TP-PCR), followed by fragment analysis on the Applied Biosystems 3500/3500xL Genetic Analyzer or SeqStudio Genetic Analyzer, to accurately determine up to 200 CGG repeats and detect alleles that are >200 CGG repeats.

The CarrierMax SMN1/SMN2 Reagent Kit uses multiplex PCR amplification of genomic DNA and capillary electrophoresis to detect deletions in exon 7 of the Survival of Motor Neuron 1 (SMN1) gene that result in truncated SMN protein. In addition, the kit detects two variants associated with the silent carrier (2+0) haplotype. The results are processed with GeneMapper Software in conjunction with included CarrierMAX Software to consolidate data and simplify carrier classifications in spinal muscular atrophy (SMA) carrier screening research.