Germline variants in specific genes can confer an increased susceptibility to certain types of cancer. Identification of individuals carrying such inherited mutations is crucial for genetic counseling, cancer surveillance and prevention. The first step of this process requires the reliable and unbiased identification and annotation of relevant variants.
The ViennaLab Hereditary Cancer NGS Assay offers a complete solution comprising library preparation, bioinformatic analysis and generation of a genetic variant report.

Hereditary Cancer NGS Assay

• Hereditary cancer syndromes are the result of specific inherited genetic mutations that confer a defined increased cancer risk.¹
• Genetic testing enables the identification of the individuals at increased risk and consequent appropriate medical management, like cancer surveillance plans.¹
• The ViennaLab Hereditary Cancer NGS Assay offers a complete solution comprising library preparation and proprietary bioinformatic analysis. It allows effective and streamlined variant detection of any coding mutation in 31 selected genes associated with an increased risk of hereditary cancer such as hereditary breast and ovarian cancer, Lynch Syndrome, Li-Fraumeni Syndrome, Cowden Syndrome, etc.
• Covered genes: 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.
• Variants: SNVs, InDels, CNVs, MSI.*
• Assay type: Target enrichment by hybridization.
• Target region: Whole coding sequence of covered genes including exon-intron boundaries (Target size: 97 kb).
• Recommended sequencing instruments: Illumina MiSeq, MiniSeq, iSeq 100.
  _{* MSI status is indispensable for investigation of Lynch Syndrome, and it is an important biomarker for cancer immunotherapy decisions.²}
  

Useful information: A template for calculation of final library molarity and sample sheet generation is provided in the NGS Assays support section.

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Note: REF 9-221 may contain different sets of Indexing primers. If you plan to sequence more than 16 samples on one flow cell, please mention this during ordering to your local ViennaLab distributor to guarantee unique indexing primer combinations.

For Research Use Only. Not for use in diagnostic procedure.