Cell3™ Target: Carrier Screening Panel

Carrier Screening for paediatric recessive disorders

Accurately analyse carrier status of 448 inherited childhood disorders using a single workflow.

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

One workflow 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.

Expanded 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.

Animated DNA molecule
Type of Disorder Number of Genes Covered
Cardiac 8
Cutaneous 45
Deafness 2
Developmental 46
Endocrine 15
Gastroenterologic 3
Hematologic 19
Hepatic 3
Immunodeficiency 29
Metabolic 142
Neurodegenerative 1
Neurological 119
Neuromuscular 2
Ocular 12
Renal 25
Respiratory 8
Skeletal 28
Grand Total 507

Table 1. Range of disorders covered by the Carrier Screening Panel.

Comprehensive coverage of clincally relevant genes

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 significance1.

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

Indepth carrier status report from one test

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.

Forceps holding a single eppendorf tube out of a collection of eppendorf tubes with clear liquid in
Sequencer Flow Cell Samples/Flow Cell Average Depth (expected)
NextSeq 300 cycle mid output 48 160x
NextSeq 300 cycle high output 144 160x
NovaSeq SP 300 cycle 288 160x
NovaSeq S1 200 cycle n/a 160x
NovaSeq S2 200 cycle n/a 160x
NovaSeq S4 200 cycle n/a 160x

Table 2. No. of samples per flow cell to achieve 100x mean depth of coverage based on 2 x 100bp library and maximum quoted sequencer output for Nonacus Carrier Screening Panel.

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.

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.

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.