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BRCA1/2 (BReast CAncer gene1/2), commonly referred to as tumor suppressor genes, play a pivotal role in regulating DNA damage repair via homologous recombination. Pathogenic mutations, whether germline or somatic, in BRCA1/2 can lead to tumors characterized by significant genomic instability. Individuals harboring pathogenic variants in BRCA1 or BRCA2 genes are at heightened risk for various cancer types, including breast, ovarian, prostate, pancreatic, and melanoma.
 
The AmoyDx® BRCA Pro Panel comprehensively covers all protein coding regions, intron/exon boundaries, select introns, and UTR regions of the BRCA1 and BRCA2 genes. This panel enables the detection of germline/somatic SNVs/Indels as well as germline large rearrangements (LRs) from either whole blood or FFPE tissue samples.

Mutations( Hover over each mutational type to highlight genes covered )

All
LR
SNV/INDELS
BRCA1

BRCA1

LR
SNV/INDELS
BRCA2

BRCA2

LR
SNV/INDELS

Detection of SNV,InDel and LR

Detection of SNV,
InDel and LR

Decentralized kit solution with ease of use

Decentralized kit solution with ease of use

Fast turnaround timeand cost-effective

Fast turnaround time
and cost-effective

Streamlined one-tube workflow

Streamlined one-tube workflow

Specifications

Target regions
All coding regions of BRCA1/2 genes, exon-intron boundaries, some intron and UTR regions
Alterations detected
SNV & Indel (somatic/germline), LR (germline)
Sample type
DNA from FFPE tissue, whole blood
DNA input
Optimal 50ng (minimum 30ng)
Data output per sample
0.06 Gb for germline variants
0.3 Gb for somatic variants
Sequencing type
PE150
Sequencer
Illumina MiSeqDx, NextSeq 500, NextSeq 550Dx
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days

Technology

The AmoyDx HANDLE® technology is a proprietary amplicon-based method for NGS library preparation.
It offers a time-saving and cost-effective protocol that can be completed within 5 hours, requiring just about 1 hour of hands-on time.

During the library construction process, each individual DNA molecule is tagged with a unique molecular index (UMI) at both ends. This feature enables high sensitivity in variant detection by eliminating any library amplification and sequencing bias.

The probe consists of an extension arm and a ligation arm, both complementary to the target gene region.
Target-specific probes simultaneously hybridize to the DNA/cDNA fragment, forming a circular structure with the intended target captured between the probes. Subsequently, remaining linear probes, single-strand, and double-strand DNA are digested, leaving only the target circular DNA for PCR amplification to form the final library.
Sequencing data generated with AmoyDx NGS products can be conveniently and securely analyzed using the AmoyDx NGS Data Analysis System (ANDAS). The ANDAS Data Analyzer consists of a local server and preinstalled ANDAS software equipped with specific analysis modules tailored for analyzing data from various AmoyDx NGS products.

The ANDAS server is installed within the same local network as the sequencer, providing the laboratory with complete control over data and security.
This ensures the protection of valuable sequencing data and downstream analysis results, including sensitive patient information. Accessible via a computer within the network, the ANDAS server and its preinstalled software offer an intuitive user interface for swift and straightforward analysis generation.

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