GENC 635 Genetic Diagnosis & Laboratory Methods

Primary topics covered in this course include: fundamental principles of cytogenetics, chromosome abnormalities, test report nomenclature, molecular (DNA) testing including applicability of new laboratory technologies, whole genome sequencing, variant interpretation, reporting, the informatics process, test development, oversight, and lab set-up. The course also instructs students on systematic use of lab testing in the diagnostic process for genetic conditions.