Introduction

In today’s rapidly advancing field of oncology, early and precise detection of genetic mutations is critical for improving cancer diagnosis and treatment outcomes. The ViennaLab Hereditary Cancer NGS Assay is specifically designed to meet this need, providing laboratories and clinicians with a state-of-the-art solution for the comprehensive analysis of cancer-associated genes.

Broad Spectrum of Target Genes

The Hereditary Cancer NGS Assay includes a carefully curated panel of high-relevance genes known to play a role in cancer susceptibility and progression. The targeted genes include:

APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PRSS1, PTEN, RAD50, RAD51C, RAD51D, SLX4, SMAD4, STK11, TP53, VHL

This extensive panel enables the detection of a wide range of somatic mutations, providing deeper insight into the genetic drivers of cancer.

Detection of Variants and Target Regions

The assay is optimized to identify:

• Single Nucleotide Variants (SNVs)
• Insertions and Deletions (InDels)
• Copy Number Variants (CNVs)

Targeted regions cover the complete Coding Sequence (CDS) and selected hotspot introns for gene fusions, representing a total target size of 62 kb.

Integrated Bioinformatics for Clinical Reporting

To support accurate interpretation, the assay includes seamless integration with GENOVESA bioinformatics software. This platform streamlines variant calling and annotation, converting raw sequencing data into clear, clinically actionable reports—reducing the complexity of analysis for laboratories and clinicians.

Clinical Relevance and Applications

The ViennaLab Hereditary Cancer NGS Assay empowers personalized oncology by enabling precise identification of genetic mutations linked to cancer susceptibility, prognosis, and treatment response. By uncovering clinically significant variants, it supports clinicians in tailoring therapy strategies, optimizing patient outcomes, and advancing precision medicine in oncology.

Conclusion

The Viennalab Hereditary Cancer NGS Assay is a robust, reliable, and clinically relevant solution for modern cancer diagnostics. With its extensive target gene list, comprehensive mutation detection, and integrated bioinformatics, it stands as a vital tool for laboratories and clinicians dedicated to advancing personalized cancer care.