Collaborative Designs Carrier Screening Panel

Carrier Screening for pediatric recessive disorders

Cell3 Target: Carrier Screening panel

Accurately analyze 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 multiplex PCR assay (MLPA).

Saves time and resources

One workflow saves you time and sample, without compromising on quality or robustness.

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 SNVs, indels and CNVs into a single assay, saves you time and resources and still delivers a comprehensive report on a broad range of penetrant recessive childhood disorders, all from one workflow.

Comprehensive coverage of clinically relevant genes

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
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In depth 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.

Maximize 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.

Table 2: Number of samples, per Illumina flow cell, to achieve 100× mean depth of coverage based on; 2 × 100bp cycles and the maximum quoted sequencer output for the Cell3 Target: Carrier Screening panel.

Sequencer
Flow cell
Samples/Flow cell
Average depth (expected)
NextSeq 300 cycle mid output 48 160×
NextSeq 300 cycle high output 144 160×
NovaSeq SP 300 cycle 288 160×
NovaSeq S1 200 cycle n/a 160×
NovaSeq S2 200 cycle n/a 160×
NovaSeq S4 200 cycle n/a 160×

References

See our customer publications

Product support

Cell3 Target panels are available with one of two versions of our library preparation kits:

  • Fragmentation: for use with DNA (genomic, FF, FFPE)
  • Non-fragmentation: for use with cell-free DNA

ProductCatalog No.
Cell3™ Target: Carrier Screening panel, Frag 16 samplesNGS_C3T_CSP_FR_16
Cell3™ Target: Carrier Screening panel, Frag 96 samplesNGS_C3T_CSP_FR_96_A/B/C/D*
Cell3™ Target: Carrier Screening panel, Non Frag 16 samplesNGS_C3T_CSP_NF_16
Cell3™ Target: Carrier Screening panel, Non Frag 96 samplesNGS_C3T_CSP_NF_96_A/B/C/D*

* To provide flexibility in multiplexing samples, our 96-sample kits offer a choice in adapter plate:

A = Adapter plate with indexes 1-96
B = Adapter plate with indexes 97-192
C = Adapter plate with indexes 193-288
D = Adapter plate with indexes 289-384

Interested in our Cell3 Target: Carrier Screening panel kit?