GENC 635 Genetic Diagnosis & Laboratory Methods

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