- Qualitative analysis designed to identify point variants and small insertions/deletions in
coding and non-coding exons, splice sites, and, partially, in the UTR regions of the BRCA1
and BRCA2 genes. - Cannot detect large deletions and/or insertions.
- Bioinformatic analysis with the Datagenomics software.
- Amplicon-based NGS protocol.≥
- STIDs can be included: Integrated sample identification and tracking system
- Germline testing:
Coverage: 100% of bases covered at DP100.
Uniformity: 100% of bases covered at DP100. - Somatic testing: Limit of detection 5%.
Coverage: 99.8% of bases covered at DP1000.
Uniformity: 99.8% of bases covered at DP1000. - Sensitivity and specificity >99%.
- Repeatability and reproducibility >99%.
- Compliant with the ISO 13485 and ISO 14001 standards regarding quality measures for
medical device manufacturing.
Description
Molecular genetic analysis of the BRCA1 and BRCA2 genes associated with breast and ovarian cancer by means of NGS
Format
20 rxn
Technology
NGS sequencing
Reference
IMG-313
Compatible equipment
Plataformas de secuenciación Illumina
BRCA Plus OncoKitDx, is optimized to detect germline and somatic variants in DNA from both peripheral blood and tumor tissue. The selection of the regions of interest (ROIs) takes place by amplifying them in multiplexed PCRs (approximately 150 bp amplicons) and subsequent purification of the PCR products. Subsequently, sequencing is carried out with NGS platforms, a high-throughput massive sequencing technology.
| Compatible sequencing platforms | Illumina MiSeq |
| Necessary amount of DNA | 40 ng de ADN |
| Sample type: | DNA from peripheral blood or fresh, frozen, or formalin-fixed paraffin-embedded tissue. |
| Optimal number of reads per sample | ≥100.000 PF clusters (germline testing) ≥700.000 PF clusters (somatic testing) |
| Number of samples per run (germline testing) | Illumina Nano (300 cycles): 10 Illumina Miseq Micro (300 cycles): 40 |
| Number of samples per run (somatic testing): | IIllumina Miseq V2 (500 cycles): 16 |
| Sequencing: | Paired-end (2 x 160 cycles). |
| Set-up and preparation: | 1 hour |
BRCA Plus OncoKitDx
Fill in the form to request this kit.
Call us at +34 963 212 340Or write to us at info@healthincode.com
