No more arrays. Detect SNVs, indels and CNVs in a single test.
Exome capture for cytogenomic analysis. Giving you the option to conduct whole-exome sequencing and targeted copy-number analysis in a single test.
Reduce costs. Save time. Improve diagnostic yield
Streamline your workflow
ExomeCG lets you detect all variants (SNVs, indels and CNVs) in a single, clinical-grade assay, suitable for constitutional postnatal and prenatal analysis. Less handling. Less time. More results first time.
Clinically relevant genes
The best coverage of clinical targets thanks to superior CNV detection at loci known to have both gene and exon-level rearrangements. Giving you the option to replace your array and MLPA-based CNV analysis.
Save time. Save 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.
Software to support you
ExomeCG fully integrates with the Congenica® clinical decision support platform for data visualisation and analysis. Combined with the Cell3™ Target range, we have your research needs covered, from start to finish.
One single test
Your standard workflow as a cytogeneticist probably involves multiple steps and assays, such as chromosomal microarrays (CMA), multiplex ligation probe amplification (MLPA), FISH and often this will be followed by NGS (exome sequencing). This not only increases the time you need to reach a final test report but uses up valuable sample and increases cost to result.
The ExomeCG is a clinically enhanced human exome-capture kit that streamlines this current testing paradigm allowing you to carry out robust whole-exome sequencing and targeted copy number analysis in one single test.
Table 1. Actual read coverage across clinically relevant gene panels achieved using different capture kits. The threshold dividing low from high coverage was set at RPKM > 5.
We know that coverage of the most relevant genes is important to you. ExomeCG gives superior read depth across clinically relevant gene panels, while having fewer low-coverage exons, compared with alternative exome products. Our data highlight how ExomeCG can easily detect MLPA-confirmed CNVs as small as 84bp, with the potential to push this down to 50bp.
Precision to rely on
ExomeCG generates data you can rely on. A key requirement for any NGS CNV assay is the ability to detect variants previously identified using CMA or MLPA technologies. As part of our validation we evaluated samples with known CNV tested by either MLPA or CMA and confidently recall the CNV mutations from 50bp (a single exon) up to 42Mb.
Using simulated data to provide truth sets we have shown that exceptional precision recall is possible with the Exome CG assay.
Table 1. Detection of MLPA-confirmed CNVs by the ExomeCG assay. The Bayes factor is the log10 of the likelihood ratio, which quantifies the eveidence for the CNV call divided by that for normal copy number. *FBN1 exons 60-62 deletion.
Table 2. Detection of CMA-confirmed multi-gene CNVs by the ExomeCG assay. *22q11.21 CNV gain as visualised in Figure 4.
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