Overview
This webinar is now available on-demand.
Chromosomal microarray technology was introduced into diagnostic pathology services as the first-tier investigation of constitutional anomalies from 2010. It is now considered the gold standard mode of cytogenetic testing, applied to investigate valid clinical indications in post-natal, pre-natal, neoplastic disease and products of conception.
There are a variety of microarray platforms and CNV detection software programs available to clinical cytogenetic services for the purpose of detecting gain and loss of DNA and not balanced chromosomal rearrangements. SNP microarray platforms provide additional genotype information that can be used in the detection of loss of heterozygosity and uniparental disomy.
The challenging decision for most laboratories who are yet to start on this path, is where to begin. The advantage of this is time has provided valuable experience and wealth of knowledge and resources. Over the past 15 years Nicole has had the opportunity to work with numerous microarray platforms in each of the cytogenetic disciplines. Nicole will share her experience and the fundamental steps to consider when launching a molecular cytogenetic service or changing between microarray platforms.
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Dr Nicole L Chia PhD, FHGSA, FFSc (RCPA) |
Dr Nicole Chia is a highly experienced clinical scientist, having begun working in the field of Clinical Cytogenetics in 1983 and been fortunate to work in both public and private diagnostic Cytogenetic laboratories. She holds a PhD, Fellow of the Royal College of Pathologists of Australasia’s Faculty of Science (FFSc., RCPA) and Fellow of the Human Genetics Society of Australia (FHGSA). She actively supports development of scientists and has served in academic roles throughout her career and is currently a Senior Lecturer at Queensland University of Technology. Nicole has an international reputation in the field of Clinical Cytogenetics including the member of the International Standing Committee on Human Cytogenetic Nomenclature. She has been an invited speaker at numerous international and national meetings and has a number of peer reviewed scientific publications. Over the years Nicole has served on numerous Boards, including Chief Examiner and Chair of the Cytogenetics Board of Censors for the Human Genetics Society Australasia and the Australian Society of Diagnostic Genomics Quality Assurance Committee. |
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Renee Gallagher |
Renée Gallagher is the Reproductive Health and Genetic Disease Specialist for Illumina, covering Australia, New Zealand, and Singapore. After receiving her medical science degree from Queensland University of Technology, she spent 13 years applying conventional and cutting-edge techniques to translational and diagnostic genetic testing at various pathology labs. Now, working for Illumina, Renée applies that experience to helping the research and clinical community utilize Illumina technology for their experimental needs. |