Thermo Fisher Scientific CarrierScan 1S Assay Kit

Applied Biosystems™ CarrierScan™ 1S Assay Kit

The CarrierScan 1S Assay Kit includes all necessary array plates, reagents, and instrument consumables to process 96 samples.
Designed for high-productivity molecular genetics research laboratories, it enables 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 solution enables labs to quickly generate all relevant carrier status data.

Benefits

• 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 ensure reliability and reproducibility
• Analyze and export data easily — intuitive software simplifies data analysis, export, and reporting
• Run more samples with less hands-on time — process 96 samples per run, up to 768 samples per week, with manual or automated 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 curated databases and peer-reviewed literature [1–6].
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 guarantees 100% reproducibility of specific array content from run to run.
Unlike bead-based technologies that show batch-to-batch variability and SNP dropouts, the photolithography manufacturing technology used in the CarrierScan array ensures all markers are present in every batch, maintaining 100% fidelity.
The assay utilizes the proven Axiom 2.0 chemistry and GeneTitan Multi-Channel (MC) Instrument, offering efficient workflow, high throughput, and reproducibility critical for long-term data collection and analysis.

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.

Specifications