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The ViennaLab Clinical Exome Sequencing (CES) NGS Assay is a powerful genetic diagnostic tool tailored to tackle the complexity of identifying pathogenic variants linked to rare Mendelian disorders and intricate phenotypes. This comprehensive assay, offering a cost-effective alternative to Whole Exome Sequencing (WES), boasts coverage of over 7,500 genes known to contribute to disease pathogenesis. It detects Single Nucleotide Variants (SNVs) and Insertions/Deletions (InDels) across a target region spanning the complete coding sequence of these genes, including exon-intron boundaries, hotspots, and the mitochondrial genome, totaling a vast 19.7 Mb.
With a streamlined workflow, including library preparation and proprietary bioinformatic analysis through GENOVESA, the ViennaLab CES NGS Assay is poised to redefine genetic diagnostics for challenging cases.
Clinical Exome Sequencing (CES) has emerged as a pivotal tool in the realm of genetic diagnostics, providing a ray of hope to individuals caught in the labyrinth of undiagnosed rare Mendelian disorders. The diagnostic journey, often referred to as the “diagnostic odyssey,” can be a challenging and protracted one, but CES is revolutionizing this landscape.
Clinical Exome Sequencing, a subset of Whole Exome Sequencing (WES), focuses on the protein-coding regions of the genome, known as exons. This targeted approach is a cost-efficient alternative to WES while maintaining the ability to identify pathogenic variants responsible for genetic disorders. The ViennaLab Clinical Exome Sequencing (CES) NGS Assay is at the forefront of this transformation.
The VeinnaLab CES NGS Assay is a comprehensive solution that encompasses library preparation and proprietary bioinformatic analysis software, simplifying the complexities of genetic analysis. This optimized panel boasts coverage of more than 7,500 genes, all recognized contributors to disease pathogenesis. What sets it apart is its dedication to saving costs without compromising on the depth of analysis. It covers over 100 genetic diseases across a wide spectrum of medical domains, including Immunology, Pulmonology, and Neurology.
The CES NGS Assay is a valuable tool for clinicians and geneticists. Addressing the formidable challenge of diagnosing rare Mendelian disorders and complex phenotypes, it offers an unparalleled level of genetic information. Unlike other assays, it extends its reach beyond exons to include intronic hotspot regions and the mitochondrial genome, ensuring a truly comprehensive solution for even the most elusive conditions.
The CES NGS Assay’s workflow is designed for efficiency. It includes everything from library preparation to bioinformatic analysis, making it a one-stop solution for genetic laboratories. The inclusion of bioinformatic analysis through the GENOVESA software ensures that the data generated is not just vast but also meaningful, enabling clinicians to make informed decisions.
It’s important to note that the ViennaLab CES NGS Assay is intended for Research Use Only and is not approved for diagnostic procedures.
The ViennaLab Clinical Exome Sequencing (CES) NGS Assay offers laboratories a streamlined, cost-efficient, and comprehensive solution for the analysis of rare genetic disorders. Its broad coverage and optimized workflow reduce the complexity of traditional sequencing approaches, helping labs shorten turnaround times, increase throughput, and deliver clinically actionable insights with confidence.
Library Preparation Box #1:
Library Preparation Box #2:
Target Capture Box #1:
Target Capture Box #2:
Clinical Exome Sequencing Target Capture Box #3:
Additional Provided Reagents – Beads:
Instructions for Use
Brochure NGS Assays
For any missing information or if you require additional details, please do not hesitate to contact us.