Key Features of GALEAS^TM Hereditary^Plus

Comprehensive Gene Coverage

• Target 146 high-risk genes linked to hereditary tumors
• Covers common hereditary cancers such as breast and prostate cancers
• Includes rare hereditary tumors like pheochromocytoma and Wilms tumor
• Encompasses clinically relevant non-coding regions (e.g., 5′ UTR of BRCA1/2 and APC promoter)

Table 1 Genes included in key guidelines associated with risk of developing hereditary cancers and included in the GALEAS^TM Hereditary^Plus panel

Exceptional Accuracy and Reproducibility

• Enhanced probe design ensures high sensitivity in detecting SNVs, INDELs, and CNVs
• High uniformity and comprehensive coverage improve diagnostic reliability
• Validated with 437 SNPs using standard control NA24385

Table 2 GALEAS™ Hereditary^Plus SNV and indel recall across 4 replicates of reference standard NA24385

GALEAS™ Analysis Software for Optimized Bioinformatics

• Cloud-based bioinformatics pipeline for accurate variant interpretation
• Embedded 「Panel of Normals」 enhances CNV detection accuracy
• Enables detection of mosaic copy number variations in key genes (e.g., APC, TSC2)

Superior Precision in Copy Number Variant (CNV) Detection

• 100% accuracy in detecting CNVs in NIBSC Lynch syndrome MLPA cell lines
• Detection of single-exon to whole-gene CNVs with high reproducibility
• Improved detection of mosaic CNVs in essential hereditary cancer genes

Table 3 Recall and Precision Statistics for Copy Number Alterations (CNVs) in NIBSC Reference Controls Using the GALEAS™ Hereditary^Plus panel

Performance Specifications

• High on-target read percentage, low duplication rates, and consistent coverage
• 99% of targets covered at 30x or greater, ensuring high accuracy
• Superior performance compared to competitors without increased sequencing costs

Table 4 Sequencing Metrics for GALEAS™ Hereditary ^Plus. Compared with another commercial alternative, GALEAS™ Hereditary ^Plus delivers 100% more content (including CNV probes) for less than 10% more sequencing

References

1. Ngeow J, Eng C. Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet. NPJ Genomic Medicine. 2016;(1):1-3.