BRCA1/2 Research Assay V2 - iGeneTech Bioscience Co., Ltd.

Overview

Advantages

Performance

Ordering Info

Resources

Overview

This product includes the exonic regions of the BRCA1/2 genes and key loci in non-exonic regions from the ClinVar database. It can detect gene-related point mutations as well as insertions and deletions, and is suitable for related diagnosis, screening, and risk assessment of hereditary breast cancer, ovarian cancer, etc.

Product Specifications

Technical Platform	MultipSeq® Multiplex Amplicon Sequencing
Coverage Size	20.2 kb
Reference Database	RefSeq
Reference Genome	GRCh37 (hg19)
Coverage	Includes all exon regions of BRCA1 & BRCA2 genes, at least 10 bp of upstream and downstream flanking regions, and UTR regions, as well as 228 pathogenic, likely pathogenic, and variants of uncertain significance located in non-exon regions from the ClinVar database.
Storage	-20℃±5℃
Sequence Platform	Illumina / MGI
Recommend Sequencing Read Length	PE150/PE100
Recommend Sequencing Data	0.2 Gb/5000×
Applications	Health screening and risk assessment

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Advantages

Highly optimized workflow

Based on self-developed MultipSeq® multiplex amplicon sequencing technology, enabling highly specific targeted enrichment.

Comprehensive coverage

Fully covers the regions to be tested.

Excellent performance

Stable and superior metrics in coverage, capture efficiency, and uniformity.

Convenient and efficient

Short experimental cycle (3-4 hours) and simple operation.

Performance

Excellent Performance

Capture performance remains consistently stable and superior across various sample types

Performance evaluation of the MultipSeq® BRCA1/2 Research Assay V2 (for Illumina) kit across different sample types.

Genomic DNA (gDNA) was extracted from blood samples, female saliva samples, and male saliva samples, with 40 ng of each input for library preparation. Sequencing was performed on the NovaSeq 6000 platform using PE150 read length, generating approximately 120 Mb of sequencing data.

High sensitivity and accuracy in mutation detection

Reference material mutation detection results

Gene	Variant	Expected Allelic Frequency, %	Reported Allelic Frequency
BRCA1	S1634G	5.0%	4.54%
BRCA1	K1183R	5.0%	4.8%
BRCA1	P871Q	45.0%	48.3%
BRCA1	K820E	5.0%	5.1%
BRCA1	S694S	5.0%	4.7%
BRCA1	D435Y	5.0%	4.9%
BRCA2	N289D	5.0%	5.3%
BRCA2	H743H	5.0%	4.5%
BRCA2	N991D	5.0%	5.2%
BRCA2	S1172S	5.0%	5.2%
BRCA2	V1269V	5.0%	5.3%
BRCA2	L1521L	100.0%	100.0%
BRCA2	N1784fs	10.0%	11.3%
BRCA2	V2171V	100.0%	100.0%
BRCA2	V2466A	100.0%	100.0%
BRCA1	R1443*	1.0%	0.7%
BRCA2	K1132K	45.0%	44.1%
BRCA2	D1420Y	5.0%	5.1%
BRCA2	K1691fs	5.0%	7.6%
BRCA2	S455S	5.0%	5.6%
BRCA2	S2414S	37.0%	37.3%

Note: iGeneTech MultipSeq® BRCA1/2 Research Assay V2 (for Illumina) was used to test Cobio BRCA reference materials: the detection rate for 21 loci was 100%, and the detected frequencies were essentially consistent with the theoretical mutation frequencies.

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Ordering Info

MultipSeq® BRCA1/2 Research Assay V2

Product Name	Set	Cat. No
MultipSeq® BRCA1/2 Research Assay V2 (for Illumina)	4 rxn	M62230
	24 rxn	M62235
	96 rxn	M62232
MultipSeq® BRCA1/2 Research Assay V2 (for MGI PE100)	4 rxn	M62240
	24 rxn	M62245
	96 rxn	M62242

Resources

bed File

MultipSeq® BRCA1/2 Research Assay V2 bed file
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Demo DataSet

MultipSeq® BRCA1/2 Research Assay V2 demo data
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Flyer

BRCA Research Assay V2
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