ASI Webinar: Chromosomes in a DNA World
Webinar – Wednesday, September 12th at 8AM PDT / 11AM EDT
Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural chromosomal rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals for diagnostic genetic testing.
This presentation will discuss how, dependent on the referral reason, light microscopy, microarrays and WGS can be integrated into an efficient workflow. Based on real-life examples, it will be shown that several types of clinically relevant genome aberrations cannot be detected by WGS. In a world dominated by DNA sequencing, light microscopy will remain a valid approach to provide patients and their families with the best possible diagnosis.
Join us for an overview of diagnostic methods in the genome laboratory and for a glimpse of the future, in which WGS will be “one test fits most” rather than “one test fits all”.
Guest Speaker: Ron Hochstenback, PhD
Laboratory Specialist – Clinical Genetics
Ron Hochstenbach is a Laboratory Specialist in Clinical Genetics at the Amsterdam University Medical Center. He received his Ph.D. in Biology from the Radboud University in Nijmegen and trained in clinical cytogenetics at the Dept. of Medical Genetics, University Medical Centre, Utrecht, The Netherlands.
During 21 years in Utrecht, he specialized in constitutional cytogenetic diagnosis, both pre- and postnatal. He transferred to Amsterdam in 2017 where he continues to further specialize in Whole Exome Sequencing. During his career, he has aimed to optimize the diagnostic work-flow for every patient, combining karyotyping, FISH, array and DNA-sequencing.
He is a board certified Laboratory Specialist, a GenQA assessor for breakage syndromes and chairman of the GenQA Specialist Advisory Group Postnatal Cytogenomics. He actively engages in the teaching of human genetics to students of medicine and medical professionals.
Applied Spectral Imaging (ASI) is a global leader in biomedical imaging with a comprehensive product portfolio and a global distribution footprint. The Company’s technology, powered by GenASIs, enables Pathology, Cytogenetics and Research laboratories to provide advanced diagnostics to patients. ASI has a wide portfolio of dedicated solutions for Brightfield, Fluorescence and Spectral imaging and analysis, including HiPath Pro, PathFusion, HiBand, HiFISH, Harmony and Rainbow.
