Cell3™ Target: Carrier Screening Panel

Comprehensive coverage of paediatric recessive disorders
in a single NGS test.

448 severe recessive childhood disorders in one panel so you can analyse carrier status across a broad range of inherited childhood disorders in one workflow

Comprehensive. Efficient. Cost effective.

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Comprehensive content

Designed to enrich for genes with high clinical significance in a broad range of rare, highly penetrant recessive childhood disorders

Streamlined workflow

Consolidate multiple technology workflows into one simple NGS assay. No arrays. No MLPA.

Save time and resources

Use as little at 10ng of DNA unlocking prenatal or limited samples and get results days earlier. ExomeCG saves you time and sample, without compromising on quality or robustness.

Cost effective

Optimised so that as little 2.7Gb of data per sample is required to achieve accurate carrier status.

 

Advancing Carrier Screening

Traditionally, molecular research laboratories have based their analysis of carrier status on just a few genetic changes based on family history and/or ethnicity. However, with the advances in next generation sequencing (NGS) and identification of more causative variants—both sequence and structural— it is becoming not just possible but important to expand carrier screening to include more variants and diseases.

That’s why Nonacus have developed Cell3™ Target library preparation solutions for Next Generation Sequencing (NGS). Combining the analysis of SNV’s, indels and CNV’s into a single assay, they enable you to save time and resources and still deliver a comprehensive report on a broad range of penetrant recessive childhood disorders, all from one workflow.

Carrier Screening
Carrier Screening
Genes by Disease Type - Table 1

Comprehensive coverage of the right content

We know that coverage of the most clinically relevant genes is important to you. The 448 disorders represented on the Nonacus Cell3™ Target: Carrier Screening panel all meet the American College of Medical Genetics (ACMG) guidelines and have been selected based on their high penetrance and clinical significance [1]. For each gene selected all coding exons and splice site junctions, and intronic, regulatory, and untranslated regions known to contain disease mutations have been targeted.

See full list of disorders

Simple, efficient workflow

For expanded carrier screening to be effective we know you need to be able to assess a range of genetic variants, including copy number deletions or duplications. We also know that this can mean running a host of workflows from PCR and multiplex ligation-dependent probe amplification (MLPA) to sequencing and microarrays. This not only increases the time it can take you to reach a final report but can have a significant impact on your cost per test.

The Cell3™ Target: Carrier Screening panel streamlines this allowing you to carry out targeted sequencing and copy number analysis and deliver a comprehensive carrier status report from a single test.

Simple efficient workflow
Carrier Screening Panel Samples

Maximise sequencing efficiency

By increasing the yield per sample, Nonacus Cell3™ Target library prep solutions allow you to run more samples per flow cell increasing your efficiency and reducing your cost per sample.

Product Resources

Detailed product information available to download.

Product Support

If you have any questions about any of our products, including access to the BED files and example data sets, please fill in the support request form here and we will get back to you as soon as possible.

References

  1. Bell CJ, et al.  Carrier testing for severe childhood recessive diseases by next-generation sequencing, Sci Transl Med 2011; 3: 65ra64

 

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

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