Preconception Carrier Screening

Advances in genetic analysis tools are revolutionizing reproductive health and transforming the way carrier screening is being conducted. Traditionally, molecular research laboratories have focused on analyzing 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, it is becoming significantly important to expand carrier screening to include more variants and diseases.

The Applied Biosystems CarrierScan Assay is a high-throughput, cost effective, pan-ethnic targeted microarray-based tool for the reliable and robust detection of sequence and structural variation for expanded carrier screening across a wide range of ethnicities. This tool is the most comprehensive copy number variant (CNV) carrier screening solution for challenging diseases such as spinal muscular atrophy (SMA), Duchenne muscular distrophy (DMD), and thalassemias. In addition this tool enables the ability to tailor 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 data quickly.


CarrierScan Assay

  • High throughput, cost effective, pan-ethnic targeted panel combining single nucleotide variant (SNV) and CNV determination with easy data reporting
  • The most comprehensive CNV carrier screening solution for challenging diseases such as SMA, DMD, and thalassemias
  • Tailored content to select from our database of >6,000 variants including 800+ performance-verified variants with true positive clinical samples

Consolidate multiple assays into one

To perform expanded carrier screening 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. 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 labor costs.


Figure 1. Common genetic conditions requiring detection of both sequence and structural variants.

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.

CarrierScan Assay

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 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.

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