Overview
Celemics’ BRCA 1/2 Target Enrichment Sequencing Service is
designed to enrich whole coding sequences (CDS) of the BRCA1
and BRCA2 genes including UTR, promoter, and +/- 40 bases
of CDS to detect the variants in the splicing site.
of variants including large indel and CNV. High performance of the panel guarantees reliable and consistent sequencing results
to customers even if using DNA from low-quality clinical samples or FFPE. Additionally, Celemics provides clinical grade report from our proprietary
bioinformatics pipeline with Strand LifeScience.

Features &
Benefits
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- Targets the whole CDS (+/- 40) and promoter regions of
BRCA 1/2 with high specificity - Target regions not only covering the CDS regions but expanded to
+40 and -40 of CDS to detect the splicing site variants - Probes specifically designed for detecting deletion, duplication,
and large rearrangement
- Targets the whole CDS (+/- 40) and promoter regions of
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- Compatible with a variety of sample types
- No compromise on panel performance regardless of using DNA
from challenging Specimen types such as blood and FFPE
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- Market leading panel performance in uniformity and coverage
- Designed to target the whole exon regions of BRCA 1, 2 gene with 100%
coverage (RefSeq) and validated to yield 100% coverage
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- Clinical grade performance
- The CE-IVD obtained target enrichment panel
- Upper than 95% of sensitivity and 99.5% of specificity
of all types of mutations (SNV and Indel)
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- Provision of Bioinformatics SW
- FASTQ to annotated VCF
- Clinical grade report
- EU-GDPR compliant through usage of Europe-based server
Performance
Market leading panel performance in Uniformity and Coverage Comparison data with competitors' products
- The extremely low standard deviation of uniformity enables consistent and reliable sequencing results
- In-house test of the panel shows 100% of coverage for all target regions including whole CDS (+/- 40 bp), UTR, and promoter region
User-friendly analysis report with information of all types of variants and CNV

- The extremely low standard deviation of uniformity enables consistent and reliable sequencing results
- In-house test of the panel shows 100% of coverage for all target regions including whole CDS (+/- 40 bp), UTR, and promoter region
Applications
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Breast and Ovarian cancer related fields