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The AmoyDx® HRD Complete Panel is a next-generation sequencing (NGS) based assay intended to provide tumor profiling of the following purposes:
 
1. Determination of homologous recombination deficiency (HRD) status via qualitative detection and classification of single nucleotide variants (SNVs) and insertions and deletions (InDels) in protein coding regions and intron/exon boundaries of the BRCA1 and BRCA2 genes and the determination of the Genomic Scare Score (GSS) which is an algorithmic measurement of genomic instability status.
2. Qualitative detection and classification of SNVs, InDels, and homozygous deletions (HDs) in protein coding regions and intron/exon boundaries of the following 20 homologous recombination repair (HRR) genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CHEK1, CHEK2, FANCA, FANCL, HDAC2, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, TP53.
 
The assay uses DNA isolated from formalin-fixed paraffin embedded (FFPE) tumour tissue specimens.


 
Essential PARPi Biomarkers in One Complete View



 
Proprietary GSS Algorithm Captures Genomic Instability
Machine-learning assessment of genome-wide copy-number patterns for confident HRD characterization.




 

Longer PFS with PARPi Treatment for GSS-positive Group


The study highlights the promising value of GSS in identifying patients 
who may respond favorably to PARPi treatment.
 



 
 

White Paper

1. Comparative Analysis of HRD Complete Data on MGI DNBSEQ-G50 and NextSeq 550
 

The study confirms that the AmoyDx® HRD Complete Panel performs exceptionally well on both MGI G50 and NextSeq 550 platforms. The MGI G50 demonstrated superior sequencing quality and data QC performance while maintaining comparable accuracy in SNVs/InDels and HDs detection as well as HRD (GSS) assessment. These findings validate MGI G50 as a robust and reliable platform for HRR gene mutation screening and HRD (GSS) status analysis.
 

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

All
HD
SNV/INDELS
ATM

ATM

HD
SNV/INDELS
BARD1

BARD1

HD
SNV/INDELS
BRCA1

BRCA1

HD
SNV/INDELS
BRCA2

BRCA2

HD
SNV/INDELS
BRIP1

BRIP1

HD
SNV/INDELS
CDH1

CDH1

HD
SNV/INDELS
CDK12

CDK12

HD
SNV/INDELS
CHEK1

CHEK1

HD
SNV/INDELS
CHEK2

CHEK2

HD
SNV/INDELS
FANCA

FANCA

HD
SNV/INDELS
FANCL

FANCL

HD
SNV/INDELS
HDAC2

HDAC2

HD
SNV/INDELS
PALB2

PALB2

HD
SNV/INDELS
PPP2R2A

PPP2R2A

HD
SNV/INDELS
PTEN

PTEN

HD
SNV/INDELS
RAD51B

RAD51B

HD
SNV/INDELS
RAD51C

RAD51C

HD
SNV/INDELS
RAD51D

RAD51D

HD
SNV/INDELS
RAD54L

RAD54L

HD
SNV/INDELS
TP53

TP53

HD
SNV/INDELS

Fast turnaroud time within 3 days

Fast turnaroud time within
3 days

Cost- effective

Cost- effective

Streamlined one-tube workflow

Streamlined one-tube workflow

Secure data analysis and interpretation

Secure data analysis and interpretation

Specifications

Alterations detected
20 HRR genes (SNVs/InDels/HDs) and Genomic Scar Score (GSS)
Sample type
FFPE tissue
Sequencer
Illumina NovaSeq 6000, NextSeq 500, NextSeq 550, NextSeq 550Dx, Salus Pro
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days

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