Clinical Exome Sequencing can solve the “diagnostic odyssey” of individuals with presumed rare Mendelian disorders and challenging phenotypes.1
The ViennaLab Clinical Exome Sequencing (CES) NGS Assay enables comprehensive analysis of > 7500 genes covering > 100 genetic diseases in a single test.
Clinical Exome Sequencing (CES) NGS Assay
- Clinical Exome Sequencing enables a comprehensive and effective analysis of relevant disease-associated genes in a cost-efficient manner compared to Whole Exome Sequencing.
- The ViennaLab Clinical Exome Sequencing (CES) NGS Assay offers a complete solution comprising library preparation and proprietary bioinformatic analysis software allowing simplified and streamlined comprehensive analyses.
- The optimized panel content covers more than 100 genetic diseases in areas such as Immunology, Pulmonology, Neurology, and allows an increase in sequencing coverage where it matters in order to save costs.
- Covered genes: 7500+ genes that are known contributors of disease pathogenesis.
View full gene list document here . - Variants: SNVs, InDels, MSI.
- Assay type: Target enrichment by hybridization.
- Target region: Whole coding sequence of covered genes including exon-intron boundaries, hotspots and mitochondrial genome (Target size: 19.7 Mb).
- Recommended sequencing instruments: Illumina NextSeq, NovaSeq.
Useful information: A template for calculation of final library molarity and sample sheet generation is provided in the NGS Assays support section.
How can I analyze my sequencing data and summarize it in a meaningful report? Follow me.
Note: REF 9-241 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.