Newborn screenings

Copy number variations (CNVs) are well-recognized genomic structural variants associated with genetic disorders. Chromosomal microarray analysis (CMA) successfully detects submicroscopic CNVs, and since 2010, is used as a first-tier test for the detection of CNVs related to intellectual disability, developmental delay, autism spectrum disorders, and congenital abnormalities. 

At Thermo Fisher Scientific we have two flagship microarray solutions for postnatal chromosome analysis: CyoScan XON Suite and CytoScan HD Suite.

CytoScan HD Suite is suitable for both Pre-natal and Post-natal applications. Learn more about it on the Prenatal Applications page.

CytoScan XON Suite

Overcome the challenges of the exome odyssey with reliable single-exon deletion and duplication detection using the Applied Biosystems CytoScan XON Suite. Designed to cover the whole genome, with increased coverage in 7,000 ClinVar's clinically relevant genes, the CytoScan XON Suite provides CNV data that works as a strong complement to mutation analysis performed by next-generation sequencing (NGS).

  • An exon-level microarray designed to comprehensively detect single-exon deletions and duplications in a cost-effective manner
  • Complements NGS mutation analysis to reliably confirm CNVs
  • Simple and streamlined variant analysis and reporting flexibility with gene panel or gene-level tier options

Our partners are making significant positive strides in reproductive health. Watch this video to learn more about single-exon deletion and duplication detection with CytoScan XON Suite at the Greenwood Genetic Center in Greenwood, South Carolina.

Video: Greenwood Genetic Center's single exon deletion/duplication detection is now possible with CytoScan XON


Sensitive exon-level copy number and superior coverage across the whole genome

The CytoScan XON Suite is a microarray solution that detects single-exon deletion and duplication events with high sensitivity in key relevant genes in addition to providing whole-genome coverage (Figure 1). The single-nucleotide polymorphism (SNP) probes allow sample tracking, duo-trio, and loss of heterozygosity (LOH) analysis.

ChAS-data
Figure 1. Detailed view of ChAS data analysis software, displaying a single duplication of exon 11 in the CDK7 gene.

Smart design improves resolution in key genes

The CytoScan XON Suite content was designed through empirical selection from a pool of over 49 million probes for copy number responses across the genome.

Reporting flexibility with gene panel or gene-level tier analysis

The flexibility of Chromosome Analysis Suite (ChAS) data analysis software enables easy viewing and summarizes the exon-level CNV results in various ways based on your specific clinical research needs.

Target-exon

 Click to enlarge
Figure 2. Design strategy for probe coverage of the key genes and exons within.

Gene panel analysis

Simplify result reporting by using your preferred gene list or panel in the intuitive ChAS software. This analysis feature allows you to obtain exon-level CNV results limited to the gene panel you upload and view only the genes of interest with restriction mode enabled (Figure 3).

ChAS display
Figure 3. Detailed view of ChAS displays targeted gene panel analysis with restriction mode enabled, such that no data outside the gene(s) of interest is viewed.

Gene-level tier analysis

Gene-level tier analysis is incorporated into the user-friendly ChAS software, where the software displays results by gene-level tiers based on clinical research relevance.

Learn more about CytoScan XON Suite:

Learn more about CytoScan HD Suite:

Would you like to speak to an expert?

CACdb

Are you trying to learn more about how to deal with rare and challenging prenatal case? The Cytogenomics Array Group CNV Database (CAGdb) may be the answer.

Find out more