Clinical Cytogenetic Testing: Applications in Constitutional and Oncology Settings


Cytogenetic testing is utilized across multiple areas of medicine for the diagnosis of heritable (constitutional) genetic conditions, as well as in cancer, particularly hematologic disease. This presentation will provide an overview on the utility of clinical cytogenetic testing for patients with developmental constitutional disorders, prenatal and perinatal diagnosis, pregnancy loss, and in cancer.

Originally published on November 15, 2018

Lecture Presenter

Erica F. Andersen, PhD, FACMG

Erica F. Andersen, PhD, FACMG

Medical Director, Cytogenetics and Genomic Microarray
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine

Dr. Andersen is an assistant professor of pathology at the University of Utah School of Medicine. She received her PhD in genetics from the University of Wisconsin–Madison and completed a clinical cytogenetics fellowship at the University of Utah. She is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics. Dr. Andersen’s interests include both constitutional and oncology cytogenetics. She is an active member of the Clinical Genome Resource (ClinGen) group’s efforts to improve constitutional structural variant interpretation, and her oncology research projects include improving the diagnosis and monitoring for myelodysplastic syndromes and understanding the genetic etiology of rare histiocytic and dendritic cell neoplasms.


After this presentation, participants will be able to:

  • List the areas of medicine that overlap with clinical cytogenetics and common indications for testing across these disciplines
  • Explain the basic methodologies, technical capabilities and limitations of chromosome analysis, FISH and genomic microarray
  • List common cytogenetic abnormalities encountered across different clinical contexts, including childhood developmental phenotypes, prenatal and perinatal diagnosis, pregnancy loss and in cancer

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories