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.
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
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
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
Publications
1. Feng, Cong et al. Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score. The Breast, Volume 69, 392 - 400.
2. Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, et al. Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability. BJOG. 2022; 129(Suppl. 2): 14–22.
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