QIAseq xHYB HRD Panel

QIAseq xHYB HRD Panel provides a comprehensive assessment of homologous recombination deficiency (HRD)  by interrogating genomic instability signatures using a genome-wide SNP backbone and 98 HRR-related genes, including BRCA1/BRCA2.

QIAseq xHYB HRD Panel measures genomic instability signatures that reflect DNA repair defects associated with HRD, including: 

• Loss of heterozygosity (LOH): Regions where one parental allele is lost due to deletions, mitotic recombination, or gene conversion, representing widespread allelic imbalance typical of HRR‑deficient tumors
• Large‑scale transitions (LST): Chromosomal breakpoints between adjacent regions ≥10 Mb, separated by ≤3 Mb, indicating structural disorganization caused by failure in accurate double‑strand break repair
• Telomeric allelic imbalance (TAI): Imbalance extending to the telomere without crossing the centromere, arising from replication stress and faulty resolution of stalled or collapsed replication forks

Together, these orthogonal signatures create a genomic scar profile linked to HRR loss and BRCA1/2 deficiency.

The panels can be used independently or combined seamlessly with the QIAseq xHYB CGP DNA Panel to enable consolidated CGP research workflows that detect all major variant classes (SNVs, indels, CNVs and rearrangements) across 724 genes, including TMB, MSI and HRD from FFPE DNA. 

• Demonstrated high on-target coverage across FFPE samples (>99% of target region ≥100×)
• Performance validated on Illumina platforms, Element AVITI Cloudbreak Freestyle and Trinity workflows
• High sensitivity for SNVs, indels and CNVs across HRD-associated genes
• Strong concordance with Myriad MyChoice pipeline in comparative studies 

QIAseq xHYB HRD Panel employs hybrid capture-based enrichment to target genome‑wide SNPs, HRR‑related genes and MSI loci. Following fragmentation and library preparation, biotinylated xHYB probes selectively hybridize to regions of interest. Streptavidin‑magnetic bead capture isolates targeted fragments, which are then amplified and sequenced. This enables high‑coverage assessment of genomic instability signatures (LOH, LST and TAI) and HRR gene variants with precise, uniform enrichment across FFPE DNA samples.

The QIAseq Fx DNA Library Kit or the QIAseq Multimodal DNA/RNA Library Kit is recommended for whole genome library preparation prior to hybrid capture with the QIAseq xHYB HRD Panel. Other whole genome sequencing (WGS) library preparation kits are also compatible, as long as the libraries are prepared without modifications with biotin.

During hybridization, biotinylated xHYB probes selectively enrich genome-wide SNPs, HRR-related genes and MSI loci. Streptavidin magnetic bead pull-down isolates targeted fragments, which are then amplified and purified. Final libraries undergo quality control and are sequenced to generate reads with high-depth coverage suitable for HRD scoring and variant detection.

The resulting FASTQ files are uploaded to the QIAGEN CLC Genomics Workbench for filtering, read mapping and variant calling and HRD scoring.  The VCF output is uploaded to QIAGEN Clinical Insight – Interpret (QCI-I), enabling a variant-filtering cascade that facilitates prioritizing variants for evidence-based interpretation for research use only.

QIAseq xHYB HRD Panel is optimized for research use only applications requiring comprehensive HRD assessment and genomic instability. Key applications include:

• HRD characterization in tumor samples by evaluating genomic instability signatures (LOH, LST, TAI) and HRR gene variants  
• Companion biomarker discovery by supporting the development of HRD-linked biomarkers for therapeutic response prediction, such as response to PARP inhibitors and platinum-based chemotherapy
• Comprehensive genomic profiling through simultaneous analysis of SNVs, indels, CNVs, rearrangements, TMB, MSI and HRD by integrating with the QIAseq xHYB CGP DNA Panel  
• Mechanistic studies of DNA repair pathways by investigating HRR pathway defects and genomic instability mechanisms in preclinical models
• Translational oncology research using FFPE tumor DNA to study HRD prevalence, tumor evolution and genomic instability patterns

QIAseq xHYB HRD Panel is intended for research use only. Not for use in diagnostic procedures. Performance on cfDNA has not been validated.