GALEAS™ Tumor: Comprehensive Tumor Profiling

GALEAS™ Tumor

Cancer Genomic Profiling

Advanced NGS-Based Identification of Tumor Mutations

GALEAS™ Tumor is a cutting-edge next-generation sequencing (NGS) solution designed to provide in-depth cancer genomic profiling. It enables the detection of clinically significant biomarkers, offering insights into tumor mutational burden (TMB), microsatellite instability (MSI), and structural variations.

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Key Features of GALEAS™ Tumor

Clinically Relevant and Up-to-Date Content

  • Aligned with UK NHS National Genomic Test Directory, NCCN, FDA, and ESMO guidelines
  • Covers 519 genes, including SNVs, INDELs, CNVs, and fusion genes
  • Provides TMB and MSI scoring for immunotherapy prediction
  • Includes 64 pharmacogenomics SNPs, hereditary and pediatric cancer insights, and HLA profiling for solid tumor

Advanced Immune-Oncology Biomarker Detection

  • Integrated TMB and MSI analysis for assessing tumor genomic instability
  • Supports precision medicine approaches for immunotherapy response prediction

Powerful GALEAS™ Analysis Software

  • Cloud-based platform for rapid and accurate variant calling (SNV, INDEL, SV, CNV, TMB, MSI)
  • Enhanced CNV detection with resolution >1Mb
  • User-friendly bioinformatics solution developed alongside the panel

GALEAS™ Tumor Panel Design

This NGS solution covers essential driver mutations and key immuno-oncology biomarkers with:

  • Identity tracking SNPs
  • SNVs, CNVs, INDELs across 519 genes
  • Enhanced CNV backbone for improved copy number variation detection
  • Comprehensive coverage of 1p/9q codeletion (Glioma-associated)
  • Structural variant detection including ALK, BRAF, EGFR, FGFR2, FGFR3, NTRK1, NTRK2, RET, ROS1, TMPRSS2
  • 64 pharmacogenomics SNPs relevant to oncology
  • HLA gene profiling for solid tumor characterization

High-Precision Variant Detection

SNV and INDEL Accuracy

  • Validation using FFPE reference samples confirmed and R2 correlation of 0.99 at 500x depth (Figure 1)
Figure 1 SNV and INDEL recall rate for alterations in reference material from FFPE.
  • Achieved 100% accuracy in somatic mutation detection across 50 colorectal cancer (CRC) samples (Figure 2)
Figure 2 Oncoplot from 50 CRC FFPE cohort highlighting detection of somatic mutations in genes with known cancer hotspots.

Copy Number Variant (CNV) Detection

  • Enhanced CNV calling with a resolution >1Mb
  • Strong correlation observed between GALEAS™ Tumor CNV data and shallow whole genome sequencing (sWGS) results (Figure 3)
Figure 3 Comparison of GALEAS Tumor SNP backbone data with sWGS for a representative colorectal cancer sample.
  • Validated detection of CNV alterations in EGFR and MET genes (3, 6, and 12 copies tested)
Figure 5 Validating gene level CNV calls with a CNV Lung and Brain Mix reference standard at (A) 12, (B) 6, and (C) 3 copies. Genes highlighted here are EGFR and MET.

Microsatellite Instability (MSI) Scoring

  • Confirmed MSI-High status in 23/24 CRC FFPE samples
  • Reliable MSI classification for normal, MSS, and MSI-H samples
Figure 4 Comparisons of GALEAS Tumor MSI scores with known MSI status from CRC primary tumor samples (MSS-High), healthy individuals (MSS) and reference standards.

Tumor Mutational Burden (TMB) Analysis

  • Strong correlation between TMB scores and MSI status in CRC samples
  • Provides reliable TMB scoring even in small panels with low mutation levels
Figure 6 GALEAS Tumor TMB scores across 50 CRC samples compared with MSI.

Efficient Sequencing and Superior Coverage

  • High on-target rates for increased sequencing efficiency
  • Uniform coverage across clinically relevant genes
  • Enables precise and reproducible variant detection

GALEAS™ Analysis Software

  • Designed to enhance GALEAS™ Tumor panel performance
  • Enables accurate TMB/MSI analysis with a streamlined bioinformatics workflow

GALEAS™ Tumor is a clinically validated comprehensive NGS solution that enables the analysis of SNV, CNV, INDEL, and TMB/MSI across 519 genes within a single NGS workflow.

Enhanced probe design, comprehensive gene coverage, and high coverage uniformity allow for accurate and sensitive detection of SNV, INDEL, SV, and CNV. When combined with the GALEAS™ Analysis Software solution, it offers a simple and user-friendly workflow from sample preparation to analysis.

References

  1. Ciriello G, Miller ML, Aksoy BA, Senbabaoglu Y, Schultz N, Sander C. Emerging landscape of oncogenic signatures across human cancers. Nature genetics. 2013;10):1127-33.
  2. The ICGC/TCGA PanCancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Na- ture. 2020: 82-93.
  3. Endris V, Buchhalter I, Allgäuer M, Rempel E, Lier A, Vol- ckmar AL, et al. Measurement of tumor mutational bur- den (TMB) in routine molecular diagnostics: in silico and real-life analysis of three larger gene panels. International journal of cancer. 2019;144(9):2303-12.
  4. Schrock AB, Ouyang C, Sandhu J, Sokol E, Jin D, Ross JS, et al. Tumor mutational burden is predictive of response to immune checkpoint inhibitors in MSI-high metastatic colorectal cancer. Annals of Oncology. 2019;30(7):1096-103.
Panel Specifications
ParametersSpecification
Enrichment methodHybridization and capture
Number of genes519
Capture Panel Size3.74Mb
Sequencing platformIllumina
TargetsGenes associated with common cancers
Variant typesSNVs, CNVs and indels
Input DNA requirements10ng-200ng
Sample typegDNA from FFPE, frozen tissue or blood
Multiplexing guidance for sequencing25M reads per sample required to achieve 500x. This equates to 5Gb per sample
Ordering Information
Product NameCatalogue No.
GALEAS Tumor Kit Frag A
(96 samples)
NGS_GAL_TCP_FR_96_A
GALEAS Tumor Kit Frag B
(96 samples)
NGS_GAL_TCP_FR_96_B
GALEAS Tumor Kit Frag C
(96 samples)
NGS_GAL_TCP_FR_96_C
GALEAS Tumor Kit Frag D
(96 samples)
NGS_GAL_TCP_FR_96_D
GALEAS Tumor Kit Frag
(16 samples)
NGS_GAL_TCP_FR_16
  • A: Adapter plate with indexes 1–96
  • B: Adapter plate with indexes 97–192
  • C: Adapter plate with indexes 193–288
  • D: Adapter plate with indexes 289–384

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