Experts reveal how exon-focused aCGH is advancing genetic research

Oxford, UK – 14 July 2016. OGT, The Molecular Genetics Company, held an exclusive workshop exploring the power of exon-focused microarrays in enhancing genetic syndrome research at the recent European Human Genetics Conference (ESHG). Three expert clinical researchers from across the globe shared their knowledge of enhanced CNV detection with OGT’s CytoSure^® Constitutional v3 array, helping viewers understand how to implement the next generation of microarray into their laboratories.

The most up-to-date array platform for CNV detection currently available, OGT’s CytoSure Constitutional v3 array, targets all relevant genes and regions from ClinGen*, the Clinical Genome Resource, and the Deciphering Developmental Disorders (DDD) project, with up to 502 of the most disease-relevant genes targeted with high probe density for single-exon-level resolution. Enabling the detection of single-exon aberrations has proved valuable in many laboratories, including the West Midlands Regional Genetic Laboratory (Birmingham, UK). In his talk at ESHG, consultant clinical scientist Dominic McMullan, described the implementation of the CytoSure Constitutional v3 array in the NHS laboratory, and how it facilitated cost-effective, evidence-based analysis of large populations. He commented: “Our decision to switch to OGT over alternative platforms was based largely on the quality of the evidence base behind the array design, allowing for a very comprehensive analysis of exons, genes and regions key in postnatal and prenatal applications. Following a rigorous validation, we found this platform out-performed all others.”

Guiding viewers through the validation process in more detail, Dr Kris Van Den Bogaert from UZ Leuven (Belgium) discussed evaluation of the CytoSure Constitutional v3 arrays in prenatal and postnatal research. Prospective validation compared key quality metrics between two platforms, while retrospective validation analysed concordance with MLPA-confirmed aberrations. From this thorough validation, the new platform was found to increase coverage for clinically-relevant regions. The data is available to view in a free application note: “Adoption of the CytoSure Constitutional v3 microarray for increased detection of disease-relevant variants”.

In light of emerging genomic technologies, the latest CNV detection capabilities of the array remains a key part of the clinical genetics research framework, as explained by Professor Madhuri Hegde from Emory University School of Medicine (Georgia, USA). In this talk, she expanded on her work with OGT combining NGS, microarrays — including OGT’s CytoSure Disease-Focused Research arrays — and an all-inclusive genomic data interpretation platform for comprehensive analysis of genetic disorders. Product Manager at OGT, Anthony Allen, commented: “We’ve been witnessing an increasing trend towards the microarray and NGS being viewed as complementary rather than competing techniques. Professor Hegde’s talk reinforced this concept, and each of our guest speakers provided valuable insights into the ways researchers can implement exon-level CNV detection for more accurate genetic disorder identification.”   

* Formerly known as ISCA/ICCG.

About OGT

OGT, a Sysmex Group company, is a leading global provider of clinical and diagnostic genomic solutions that are created for scientists by scientists - including CytoCell^®, CytoSure^® and SureSeq™ ranges of FISH, microarray and NGS products. The company is dedicated to creating products that enable researchers and clinical decision makers to reach the right care decisions for each patient, every time. OGT strives to unlock the future of genetic clinical care with a commitment to working in partnership with its customers - not only by sharing its expertise of 25 years at the forefront of genetic endeavour, but also by working closely with scientists to understand their unique challenges, and to customise its approach to meet their exact needs. Dedicated to improving clinical care, OGT believes that through partnership—together—we’ll achieve more.

For more information on the Company, please visit our website at ogt.com

CytoSure^®, SureSeq™ and myProbes^®: For Research Use Only, not for use in diagnostic procedures. CytoCell: Some products may not be available in your region.

About Sysmex Corporation

Sysmex Corporation is a world leader in clinical laboratory systemization and solutions, including laboratory diagnostics, laboratory automation and clinical information systems. Serving customers for more than 50 years, Sysmex focuses on technological leadership in diagnostic science and information tools that make a difference in the health of people worldwide. The company is also exploring emerging opportunities in the life science field. Its R&D efforts focus on the development of high-value-added testing and diagnostic technologies that are innovative, original and optimize individual health. Sysmex also seeks to leverage its state-of-the-art technologies for cell, gene and protein analysis. The company, headquartered in Kobe, Japan, has subsidiaries in North America, Latin America, Europe, the Middle East, Africa, China and Asia Pacific and employs more than 9,000 employees worldwide. Sysmex Corporation is listed in the top tier of the Tokyo Stock Exchange.

For more information about Sysmex Corporation and its affiliate companies, please visit www.sysmex.co.jp/en/.