Advanced course designed for those considering a clinical or research career in human genetics. Emphasis is on clinical molecular genetics (DNA testing). Course covers types of genetic abnormalities, methodology, nomenclature and clinical significance in pregnancy, birth defects, and cancer. Laboratory work includes basic blood extraction, DNA preparation, gel electrophoresis, capillary electrophoresis, sequencing, identification and karyotyping. Course provides updated review of latest molecular genetic methodology and applications, such as copy number analysis, chip based sequencing and next generation sequencing.