ViennaLab Clinical Exome Sequencing (CES) NGS Assay: Unlocking the Power of Comprehensive Genetic Analysis

Introduction

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.

The Role of CES

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.

Unveiling the ViennaLab CES NGS Assay

The ViennaLab 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 Impact of CES

The ViennaLab CES NGS Assay is a game-changer for clinicians and geneticists alike. It addresses the formidable challenge of diagnosing rare Mendelian disorders and complex phenotypes by offering an unparalleled level of genetic information. It doesn’t just stop at exons; it extends its reach to intronic hotspot regions and the mitochondrial genome, ensuring a truly comprehensive solution for even the most elusive conditions.

Streamlined Workflow

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.

Regulatory Information

It’s important to note that the ViennaLab CES NGS Assay is intended for Research Use Only and is not approved for diagnostic procedures.

Conclusion

The ViennaLab Clinical Exome Sequencing (CES) NGS Assay is a beacon of hope for individuals facing the uncertainty of rare genetic disorders. With its comprehensive coverage, cost-efficiency, and cutting-edge technology, it represents the future of genetic diagnostics. By unraveling the mysteries of the genome, it brings us one step closer to solving the enigmatic “diagnostic odyssey” and providing much-needed answers to patients and their families.