Sample to Insight for Inherited Disorders
Break speed and cost barriers
in genetic testing
Does your lab need a fast, cost-effective, ultra-precise workflow for germline NGS testing?
Next-generation sequencing (NGS) has transformed the field of genetic testing, enabling rapid and cost-effective identification of genetic variants associated with inherited diseases. QIAGEN’s new groundbreaking Sample to Insight solutions for inherited diseases combine hybrid-capture panels, the fastest and cheapest secondary analysis in the market, and trusted variant interpretation and reporting software powered by augmented molecular intelligence.
Sample to Insight Workflow for Inherited Disorders:
Meet us at ASHG 2023
This year, QIAGEN will be at booth #902 showcasing our Sample to Insight for Inherited Disorders solution at the Americal Society of Human Genetics (ASHG) Annual Meeting in Washington D.C., held November 1-5, 2023.
Panels
QIAseq xHYB Human Hybrid Capture Panels
The QIAseq xHYB portfolio consists of multiple large panels targeting genomic regions with known relevant genomic variants. The content has been built by leveraging variant information from the Human Gene Mutation Database (HGMD) and delivers high coverage of regions in over 10,000 genes. Optimized probe design provides efficient coverage of even the most challenging genomic regions, such as high GC-content regions.
- Never miss a target – Panels for covering HGMD-curated whole genes and protein coding sequences (CDS)
- Complete, uniform coverage – delivers 99% base-level coverage at ≥20x depth, enabling >98% combined sensitivity for SNVs and indels, while minimizing dropouts
- Single day, automation-friendly workflow – Single-day workflow with hybrid capture flexibility ranging from 30 minutes to overnight
- Reduce costs – Maximized read utilization results in up to 50% reduction in sequencing costs
Targets all (100%) disease-causing and likely disease-causing variants listed in HGMD (>300,000 variants), including variants in regulatory regions and splice sites, as well as deep intronic variants.
Panel size: 12.3 Mb
Genes: 10,000+
A hybrid-capture based solution for comprehensive carrier screening that adheres to the latest recommendations for screening autosomal recessive and X-linked conditions given by ACMG.
Panel size: 1.5 Mb
Genes: 448
Provides a spike-in to cover the full mitochondrial genome and can be paired with exome or other panels.
Panel size: 16.6 kb
Genes: Full mitochondrial genome
NGS Secondary Analysis
QCI Secondary Analysis with LightSpeed
LightSpeed is a new module for QIAGEN CLC Genomics Workbench Premium that empowers laboratories to perform NGS secondary analysis with high accuracy at unprecedented runtimes.
LightSpeed processes FASTQ files to produce VCF files containing single nucleotide variants (SNV), insertion–deletion mutation (InDel) and structural variant (SV) calls. The module is deployable using local computers or Amazon Web Services (AWS®) cloud and performs quality and adapter trimming, read mapping, deduplication, local realignment, quality control and variant calling.
NGS Variant Interpretation and Reporting
QCI Interpret for Hereditary
QCI Interpret is NGS variant interpretation and reporting software powered by augmented molecular intelligence that helps labs not only make faster decisions—but the right decisions.
Connected to the exclusive QIAGEN Knowledge Base, the industry’s most comprehensive, manually curated resource updated weekly, QCI Interpret delivers variant-specific, scientific evidence in context of phenotype or diagnosis. Interactive filters prioritize variants and proprietary algorithms transparently compute ACMG/AMP variant classifications, enabling users to generate evidence-based reports with efficiency, confidence, and reproducibility.
Resources
Contact us
Let us help you optimize your NGS analysis pipeline. Our services team is here to answer your questions and help you get from sample to final report in less time, for less money.
