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Expand your carrier screening research

Advances in genetic analysis tools are revolutionising reproductive health and transforming the way carrier screening research is being conducted. Traditionally, molecular research laboratories have focused on analysing just a few genetic changes that cause inherited diseases, and are known or assumed to be associated with an individual’s ethnicity.

With the identification of more causative variants—both sequence and structural—and increasing ethnic diversity in certain regions, it is becoming significantly important to expand carrier screening research to include more variants and diseases.

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Applied Biosystems CarrierScan Assay

The Applied Biosystems CarrierScan Assay is an innovative, comprehensive, and high-throughput microarray-based tool for the reliable and robust detection of sequence and structural variation for preconception expanded carrier screening research across a wide range of ethnicities. The unique feature of this tool is the ability to consolidate multiple copy number and genotyping tests into a single molecular assay. With simple data analysis and reporting software included in the complete solution, high-throughput molecular labs can generate all relevant carrier screening research data quickly.

  • A single solution for expanded carrier screening research
  • Consolidates sequence and structural variants into a single assay for increased productivity
  • Designed to generate reliable results from empirically selected probes that provide biological verification of the most common variants
  • Provides easy data analysis through powerful algorithms and curated annotations with automatic calculations for single or paired sample analysis; also enables customisable file exporting and reporting

Consolidate multiple assays into one

To perform expanded carrier screening research efficiently and reliably, a laboratory must be able to assess a wide range of genetic changes in each sample. For example, recessively inherited complex conditions (Figure 1) such as α- and β-thalassemia can be caused by multiple types of genetic variants, including copy number deletions or duplications in either HBA1, HBA2, or both genes (α-detection of each of these variants, multiple technologies including PCR, multiplex ligation-dependent probe amplification (MLPA), sequencing, and microarrays are needed for comprehensive analysis of a single sample.

This extensive requirement may limit a laboratory’s potential throughput and may increase infrastructure, maintenance, and labour costs.


Comprehensive coverage from the content sources you trust

The CarrierScan Assay detects approximately 6,000 sequence and structural variants in over 600 genes for 600 diseases, from well-curated, prominent databases and peer-reviewed literature. Figure 2 shows examples of the comprehensive content offered by the CarrierScan Assay.

For the CFTR gene, as an example, detection probes are included only for those mutations that are found in databases and for which relevance has been confirmed in published literature.

The comprehensive content also includes optional ancestry-informative markers (AIMs) for population analysis, and probes for sample identity tracking and quality assurance.

Figure 2. Examples of the comprehensive content included in the CarrierScan Assay.


Simple data analysis and reporting

Powerful biallelic and multiallelic detection, as well as state-of-the-art copy number algorithms are included in Applied Biosystems CarrierScan Reporter Software providing quick, reliable, and automated data analysis. Additionally, CarrierScan Reporter Software automates the most common calculations for single and paired sample analysis for carrier screening research, making reporting simple.

 

Find out more about CarrierScan Assay.
 

For Research Use Only. Not for use in diagnostic procedures.