BRCA 1/2 NGS Assay

Overview


Breast cancer remains one of the most prevalent malignancies and a leading cause of mortality among women worldwide. BRCA1 and BRCA2 are critical tumor suppressor genes responsible for repairing damaged DNA. Harmful variants in these genes significantly increase the risk of breast, ovarian, and other cancers such as fallopian tube, peritoneal, and prostate cancer. With NGS becoming a cornerstone in genetic testing, BRCA1/2 variant detection is accelerating bringing a parallel rise in Variants of Uncertain Significance (VUS) that demand precise classification.

Genetic testing for BRCA1/2 provides clarity on cancer predisposition, enabling early diagnosis and guiding personalized treatment and management strategies for improved outcomes. G2M BRCA1/2 NGS Assay ensures complete coverage and high confidence detection of critical BRCA1/2 mutations, ensuring proactive intervention and precision oncology. The panel is suitable for breast cancer detection and diagnosis identifying both germline and somatic mutations in the whole CDS (+/-40bp) and promoter regions of breast cancer associated BRCA 1 & BRCA 2 genes with high specificity.

Key features & benefits


  • Comprehensive Coverage: Targets entire CDS (±40 bp) and promoter regions of BRCA1 & BRCA2 for complete mutation analysis.
  • Dual Variant Detection: Accurately identifies germline and somatic mutations, including SNVs, CNVs, InDels and large-scale rearrangements (LSR).
  • High Specificity & Confidence: Delivers precise detection of clinically significant variants for reliable diagnosis.
  • Supports Precision Oncology: Enables early intervention and personalized treatment strategies for improved outcomes.
  • Addresses VUS Challenge: Advanced NGS technology ensures robust analysis and interpretation of Variants of Uncertain Significance.

Panel Specifications


Parameter
Description
No. of Genes:
2
Variant types:
SNVs/ Indels/ CNVs/ LSR
Covered Regions:
Whole CDS
Target size:
0.023 Mb
Coverage recommendations:
Germline: 180X
Somatic: 2000X
Data requirement (per sample):
Germline: 50 Mb
Somatic: 50 Mb
Sample Type:
Blood / FFPE
Recommended sample (input range):
DNA: 50-500 ng
Workflow time:
~1.5 Day
Platform Compatibility:
Illumina, MGI, Thermo Fisher, Element Biosciences
Bioinformatics Support:
G2M CliSeq Interpreter
Primary Analysis: FASTQ to annotated VCF
Secondary Analysis: CNVs, SNVs, InDel, Fusions
Tertiary Analysis: Clinical interpretation

Panel Performance


Features
Performance
Coverage Uniformity (0.2X):
>99%
Reproducibility (%):
96.6
Sensitivity (%):
95.2
On Target Ratio (%):
>60

*The panel’s performance is from the Illumina platform.

Proven Consistency in BRCA 1/2 Coverage

Allelic Discrimination Plot

Exceptional Uniformity for BRCA1/2 Coverage: BRCA1/2 NGS assay demonstrates near-perfect uniformity, with 0.2X coverage consistently maintained across 20 samples, ensuring reliable variant detection and assay robustness.

Mutation Landscape: BRCA Genes in Patient Samples

Melting Curve

Comparative Mutation Frequency in BRCA Genes: Mutation frequency detected by the G2M BRCA 1/2 NGS Panel across patient samples shows BRCA1 has a significantly higher mutation prevalence (~45%) compared to BRCA2 (~14%), highlighting the critical role of BRCA mutations in hereditary breast and ovarian cancer risk assessment.

Ordering Information


Commercial Name Old Cat No. New Cat No. Pack Size Platform
BRCA NGS Test Kit G2MBR00001 G710001-1 24 T Illumina
G2MBR00001 G710001-2 96 T Illumina
G2MBR00001 G710001-3 96 T – EZY Illumina – EZY
BRCA NGS Test Kit G2MBR00001 G710001-4 24 T MGI
G2MBR00001 G710001-5 96 T MGI
G2MBR00001 G710001-6 96 T – EZY MGI – EZY
BRCA NGS Test Kit G2MBR00001 G710001-7 24 T Aviti
G2MBR00001 G710001-8 96 T Aviti
G2MBR00001 G710001-9 96 T – EZY Aviti – EZY
BRCA NGS Test Kit G2MBR00001 G710001-10 24 T Thermo
G2MBR00001 G710001-11 96 T Thermo
G2MBR00001 G710001-12 96 T – EZY Thermo – EZY

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