Cell3™ Target: Carrier Screening panel

Comprehensive content

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

Saves time and resources

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

Streamlined workflow

Consolidate multiple technology workflows into one simple NGS assay. No arrays. No Multiplex Ligation-dependent Probe Assay (MLPA).

Cost-effective

Optimized so that as little 2.7 Gb 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 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

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 Product Resources below to see the full list of disorders included on the panel.

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

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

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 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 100x mean depth of coverage based on; 2 x 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	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

Product support

For access to the BED files for this panel design, please visit My Nonacus.
FASTQ files, for example data sets, are available on request, please email support@nonacus.com or complete our support request form.

Ordering information

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

Product	Catalog No.

Cell3™ Target: Carrier Screening panel, Frag 16 samples	NGS_C3T_CSP_FR_16
Cell3™ Target: Carrier Screening panel, Frag 96 samples	NGS_C3T_CSP_FR_96_A/B/C/D*
Cell3™ Target: Carrier Screening panel, Non Frag 16 samples	NGS_C3T_CSP_NF_16
Cell3™ Target: Carrier Screening panel, Non Frag 96 samples	NGS_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

Product resources

SAMPLE-SHEETS Call3 Target V1a sample sheet template	SAMPLE-SHEETS Call3 Target V1b sample sheet template
SAMPLE-SHEETS Call3 Target V2 regents protocol	SAMPLE-SHEETS Call3 Target V2 sample sheet template
SAMPLE-SHEETS Call3 Target: Carrier Screening Panel Disorder List	SAMPLE-SHEETS Nanacus 1-384 UMI adapter plate formats