Hereditary cancer

Devyser LynchFAP is a targeted NGS solution for the analysis of germline variants associated with hereditary colorectal cancer syndromes. The assay enables the detection of SNVs, indels, and CNVs in genes related to Lynch syndrome, familial adenomatous polyposis (FAP), and MUTYH-associated polyposis (MAP), also incorporating a specific LR-PCR for the correct localization of variants in…

Devyser HBOC NGS is a fast and robust NGS solution aimed at the detection of germline variants in 12 genes associated with an increased risk of hereditary breast and ovarian cancer: ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. It offers comprehensive and uniform coverage of all coding exons and exon/intron…

Devyser BRCA NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1 and BRCA2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number…

Devyser BRCA PALB2 NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1, BRCA2, and PALB2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and…

NGS sequencing assay designed for independent sample identity confirmation in WES, WGS, and gene panel workflows, providing an additional layer of traceability and integrity control from sample receipt to final analysis. It generates a unique genetic fingerprint with a simple workflow and an automated report to facilitate data interpretation. Detailed Description Operating Principle The sample…

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…

Solutions for the study of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM™ software. Detailed Description SOPHiA GENETICS™️ solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow relies on SOPHiA…