CarrierScan™ 1S Assay Kit (Applied Biosystems™)

The CarrierScan 1S Assay Kit includes all necessary array plates, reagents, and instrument consumables to process 96 samples.

Designed specifically for the needs of high-productivity molecular genetics research laboratories, the CarrierScan 1S Assay enables the assessment of more variants per sample in a single, microarray-based, high-throughput, cost-effective format. Complete with simple data analysis and reporting software, this novel solution enables labs to quickly generate all relevant carrier status data.

Benefits
Reduce the need to outsource your sample investigation and increase your ability to compete in the expanded carrier screening research market with the CarrierScan 1S Assay, which allows you to:

• Consolidate multiple assays into one—replace multiple technologies with a single pan-ethnic assay to detect >6,000 structural and sequence variants in 600 genes for 600 diseases
• Determine SMN1 carrier status
• Trust in your results—empirically selected detection probes and biological validation of the most common markers help enable increased reliability, reproducibility, and confidence in your data
• Analyze and export data with ease—fast, intuitive software simplifies data analysis, export, and reporting of results
• Run more samples and reduce hands-on time—process 96 samples per run, up to 768 samples per week, with the flexibility of manual or automated sample preparation on the GeneTitan Multi-Channel (MC) Instrument

Content
The CarrierScan 1S Assay detects more than 6,000 sequence and structural variants in over 600 genes for 600 diseases. Content includes variants informed by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) guidelines, as well as from well-curated, prominent databases and peer-reviewed literature [1–6]. The figure below shows examples of the comprehensive content offered by the CarrierScan Assay. Structural variant detection includes 24 genes/loci with exon and gene level detection for disorders such as DMD, CFTR, GJB6, HBA1, HBA2, HBB, etc.

High fidelity manufacturing and reproducible results
Carrier screening research assays require a platform that can guarantee 100% reproducibility of the specific array content from run to run. Unlike bead-based technologies that experience batch-to-batch variability and single nucleotide polymorphism (SNP) dropouts with each manufacturing batch, the photolithography manufacturing technology used in the CarrierScan array guarantees 100% fidelity and ensures all markers are present in every manufacturing batch for as long as necessary, addressing a major concern for such efforts.

The CarrierScan 1S Assay utilizes the proven and reproducible chemistry of the Axiom 2.0 Assay and GeneTitan Multi-Channel (MC) Instrument, a microarray platform preferred worldwide by genetic researchers for the efficient workflow, high throughput, and reproducibility of results critical to multiyear data collection and analysis efforts.

References
1. Grody WW et al. (2013) ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 15:482–483.
2. Landrum MJ et al. (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44:D862–868.
3. Stenson PD et al. (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577–581.
4. Zlotogora J et al. (2015) The Israeli national population program of genetic carrier screening for reproductive purposes. Genet Med 18:203–206.
5. Langfelder-Schwind E et al. (2014) Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.J Genet Couns 23:5–15.
6. Sosnay PR et al. (2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45:1160–1167.