NGS panel for hereditary cancer studies integrating the analysis of 113 clinically relevant genes with a rapid workflow and high coverage uniformity for the consistent detection of SNVs, indels, and CNVs.
Detailed Description
Operating Principle
An end-to-end solution based on hybrid capture of 113 genes (all exons covered plus ±20 bp regions) and library preparation via bead-linked transposome (eBLT) tagmentation, delivering ready-to-sequence libraries in 6.5 hours. Compatible with Illumina benchtop sequencing systems. Data processing is performed via BaseSpace™ or DRAGEN™, and features compatibility for tertiary analysis in Emedgene.
Clinical Applications
Designed to support genetic counseling units, oncology, and oncogenetics laboratories in enhancing the diagnosis and risk stratification of patients with hereditary cancer predisposition syndromes through a comprehensive assessment of germline variants associated with these pathologies.
Benefits
This panel stands out as a reference solution for laboratories seeking efficiency without compromising quality: a fast, streamlined workflow takes you from sample to data in ~48 hours, with only ~2 hours of hands-on time, while excellent coverage uniformity supports the accurate detection of SNVs, indels, and CNVs.
Furthermore, its high flexibility allows easy scaling to meet different laboratory needs, enabling high-throughput clinical routines.
Intended Audience / User
Laboratories and research groups studying genetic predisposition to cancer that require a multi-gene germline panel with high uniformity and scaling flexibility.
