Introduction to Molecular Diagnostics

The Introduction to Molecular Diagnostics lecture is designed to provide a broad background in the study of human genome structure and function, and how this knowledge is applied to clinical testing. This lecture will cover basic molecular biology concepts as well as genomic alterations that serve as molecular biomarkers in cancer. The foundations of major molecular techniques commonly performed in clinical laboratories, including karyotype testing, fluorescent in situ hybridization (FISH), chromosomal microarray, and polymerase chain reaction (PCR)-based assays will be presented, and specimen requirements, advantages, and limitations of each technique will be discussed.

Lecture Presenter
Parisa Khalili, MD
Parisa Khalili, MD
Assistant Professor of Pathology, University of Utah School of Medicine
Medical Director, Molecular Oncology, ARUP Laboratories

Dr. Parisa Khalili is a medical director of molecular oncology at ARUP Laboratories and an assistant professor at the University of Utah School of Medicine. She received a master’s degree from McGill University and a medical degree from Tehran University of Medical Sciences. She then completed an anatomic residency and molecular genetic pathology fellowship at the University of New Mexico. Dr. Khalili is board certified in anatomic and clinical pathology and molecular genetic pathology. Her research interests include genomic diagnostics in solid tumors.

Objectives

After this presentation, participants will be able to:

Describe basic elements of the human genome, and their structure and function
List specimen requirements, advantages, and limitations of major molecular diagnostics techniques
Select the appropriate technique for various biomarker detection