Support comprehensive hereditary cancer and disease risk assessment through multi-gene panel analysis, ACMG-guided germline variant classification, and family-based risk stratification.
Diagnostic Yield
Identify pathogenic variants across multiple high and moderate penetrance genes in a single assay.
Comprehensive analysis including single nucleotide changes and multi-exon CNVs.
Standardized classification for MLH1, MSH2, MSH6, and PMS2 variants.
Multi-gene panel testing has replaced single-gene analysis as the standard of care for hereditary cancer risk assessment. By evaluating a broader set of genes, labs can identify variants that might be missed by phenotype-directed testing.
Incorporate moderate-risk genes (e.g., PALB2, ATM, CHEK2) to provide a more complete picture of cancer susceptibility.
Follow the standardized 5-tier ACMG classification system to ensure consistency and transparency in clinical reporting.
Streamline the identification of family members who require targeted testing for a known familial pathogenic variant.
The gap between tumor profiling and germline risk is narrowing. Many oncology labs now incorporate germline reflex testing when a somatic variant suggests a possible inherited risk.
Smoothly transition from identified tumor drivers to germline confirmation using the same platform and institutional knowledgebase.
Apply AMP guidelines for somatic actionability and ACMG guidelines for germline pathogenicity in a unified clinical environment.
Identify variant in tumor tissue. Assess for therapy matching (AMP Guidelines).
Confirm variant in blood/normal tissue. Assess for hereditary risk (ACMG Guidelines).
Finalize report covering both tumor drivers and familial cancer susceptibility.
VarSeq provides a comprehensive suite of tools designed specifically for the needs of hereditary testing laboratories.
Eliminate the need for MLPA by detecting multi-exon deletions and duplications directly from panel data. Crucial for genes like BRCA1/2 and APC.
CNV AnalysisIntegrate family history and pedigree data into the variant interpretation process to improve risk stratification and pathogenicity assessment.
Rare Disease ApplicationAutomate the search for clinical evidence in master literature databases like Genomenon to find peer-reviewed studies supporting variant classification.
Mastermind IntegrationExplore our technical resources on hereditary cancer panels and germline variant interpretation.
Join leading clinical laboratories worldwide using Golden Helix to automate hereditary cancer and disease risk assessment with clinical confidence.