Introduction to Clinical Cytogenetics: Lecture 3

The Introduction to Clinical Cytogenetics lecture 3 will expand on the list of chromosome tests used in the clinic. An in-depth description of fluorescence in situ hybridization (FISH) will be presented, including the major FISH probe strategies, nomenclature, and applications. Chromosome microarray will be presented, together with a description of technical processing, analysis, and applications in constitutional and cancer studies.

Lecture Presenter
Cinthya J. Zepeda Mendoza, PhD
Cinthya J. Zepeda Mendoza, PhD
Medical Director, Cytogenomics, ARUP Laboratories
Assistant Professor, University of Utah School of Medicine

Cinthya J. Zepeda Mendoza is a medical director of cytogenomics at ARUP Laboratories and an assistant professor at the University of Utah. She received her doctorate degree in genetics and molecular biology from the Watson School of Biological Sciences. Following graduation, she completed a post-doctoral fellowship in human genetics and cytogenetics at Brigham and Women’s Hospital at Harvard Medical School. Then then finished a fellowship in laboratory genetics and genomics at Mayo Clinic. Cinthya is a member of the American Society of Human Genetics and the Association for Molecular Pathology. She is the recipient of the Student Travel Award for the American Cytogenomics Conference and the Gonzalo-Rio Arronte Fellowship from the Watson School of Biological Sciences.

Objectives

After this presentation, participants will be able to:

List the major applications of FISH and genomic microarray analyses in the clinic
List the steps involved in the creation and analysis of FISH and genomic microarray testing
Discuss potential secondary findings in genomic microarray