In this webinar, Dr. Vineet K. Dhiman presents the Illinois Department of Public Health study of population-based newborn screening to detect common and rare CFTR mutations associated with cystic fibrosis. The discussion includes a novel assessment of the high-throughput analysis system used in the study in terms of robustness and reliability. Dr. Dhiman will also cover various cystic fibrosis screening and diagnosis methods including those recommended by the American College of Medical Genetics.
Dr. Robin Everts from Agena Bioscience follows with an overview of Agena’s MassARRAY System and available panels for CFTR mutation analysis.
Recorded on June 7, 2022
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