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How to determine HRD status?


When the homologous recombination (HR) pathway is disrupted by gene mutations, promoter methylation, or undetermined causes, the HR pathway stops working, leading to Homologous Recombination Deficiency (HRD).

Tumors with HRD cannot repair themselves effectively after sustaining damage, contributing to genomic instability. There are limitations to determining HRD status when evaluating each 'cause'/ cause individually. Evaluating genomic instability allows for the assessment of HRD regardless of the specific cause.

HRD status can be measured by “cause” through mutations in the HRR pathway (e.g., BRCA1 and BRCA2) and by the “effect” of the presence of genomic scars at a given threshold or functional assay. HRD testing can identify 30% more PARPi-effective population than BRCA testing. (BRCA~20% vs. HRD~50%)





AmoyDx® HRD Complete Panel​ offers a comprehensive homologous recombination deficiency (HRD) test designed to simultaneously detect genetic abberations across 20 HRR genes and HRD status.



 

Comprehensively Designed GSS Algorithm

 
The AmoyDx proprietary GSS algorithm is a machine learning-based model which assesses genomic instability by analyzing different types of copy number events across the genome.



 

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.
 

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 (SNV/InDel/HD) and Genomic Scar Score (GSS)
Sample type
FFPE tissue
DNA input
Optimal 100 ng (minimum 50 ng)
Data output per sample
4 Gb
Sequencing type
PE150
Sequencer
Illumina NextSeq 500/550, NovaSeq 6000
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days

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