The BRCA1 & BRCA2 plus CNV Panel is designed for the detection of exon-level copy number variation (CNV) across the entire coding region of the BRCA1 and BRCA2 genes. The assay is designed with shorter amplicons to allow for detection of mutations from FFPE samples, while also being compatible with intact genomic DNA from blood samples. The assay sequences the full coding region plus 10bp of flanking introns. The panel utilizes proprietary Stem-Loop Inhibition-Mediated amplification (SLIMamp®) technology, a tiled amplicon-based library prep chemistry for efficient single-tube target enrichment.
| Parameter | Description / Value |
|---|---|
| Enrichment chemistry | Multiplex PCR using tiled amplicons |
| Number of genes / amplicons | 2 / 283 |
| Number of targets | Full coding gene sequence (CDS) with flanking intronic regions (10bp), ~16.8 kb total size |
| Variant types | Exon level CNV, SNV, small and medium indels |
| Average amplicon size | 155 bp |
| Recommended DNA input range | 20 ng to 80 ng |
| Sample types | DNA from tissue or blood; FFPE |
| Mapping rate | 99.0% ± 0.3% |
| % on-target aligned reads | 98.6% ± 0.2% |
| Coverage uniformity (% targets with >0.2X mean coverage) | 98.0% ± 0.1% |
*Mapping rate, % of on-target aligned reads, and coverage uniformity metrics are based on internal testing performed using reference standard materials.
Maintain control of samples and results with single-tube, tiled amplification that can be performed in-house by any NGS lab.
Achieve variant detection as low as 1% VAF† without UIDs ‡ even with limited DNA input or poor sample quality.
Improve lab efficiency and reduce “no calls”, repeat testing, and difficult interpretation decisions
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