Utility of Whole Genome Arrays for the Detection of Clinically Relevant Imbalances and Homozygosity in the Constitutional and Hematologic Malignancies Setting


Traditional chromosome analysis has been a first-tier recommended technology for both the constitutional setting of a child with intellectual disabilities or congenital anomalies as well as the hematologic setting for the patient with myeloid or lymphoid malignancies. In the constitutional setting, whole genome arrays have largely replaced traditional chromosome analysis as a first-tier test as the detection of clinically significant abnormalities has tripled with this technology over a traditional chromosome analysis. Whole genome arrays are also clinically available from multiple laboratories for detection of imbalances and stretches of homozygosity in hematologic malignancies. As we consider the value of this technology in this patient population, aspects of hematologic conditions must be considered such as mosaicism, possibility of multiple clonal populations, prevalence of clinically relevant balanced rearrangements and intragenic mutations, identification of imbalances of unknown clinical significance, and array platform design and detection limitations. This presentation will highlight the utility and challenges of this technology in both the constitutional and hematologic setting, including a discussion of compatibilities with other genetic technologies.

Originally presented on February 28, 2014, in Salt Lake City, Utah.

Lecture Presenter

Sarah South, PhD, FACMG

Sarah South, PhD, FACMG

Medical Director, Cytogenetics Laboratory
ARUP Laboratories
Medical Director, Genomic Microarray Laboratory
ARUP Laboratories
Medical Director, Genetic Processing Laboratory
ARUP Laboratories
Associate Professor of Pathology
University of Utah School of Medicine

Dr. South is a medical director for the Cytogenetics, Genomic Microarray, and Genetic Processing laboratories at ARUP and an associate professor of pediatrics and pathology at the University of Utah School of Medicine. Dr. South received her PhD from the John Hopkins School of Medicine in human genetics and completed a postdoctoral research fellowship in prenatal genetics at the Johns Hopkins Hospital and a clinical cytogenetics fellowship at the University of Utah School of Medicine. She is board certified in clinical cytogenetics by the American Board of Medical Genetics. Dr. South is the director of the ABMG-certified training program in clinical cytogentics and a faculty member in the genetic counseling training program at the University of Utah. Her research interests include the development of new technologies for enhanced detection and characterization of chromosome abnormalities.


After this presentation, participants will be able to:

  • Understand the unique aspects of a whole genome array analysis.
  • Appreciate the complexity of chromosomal changes in the constitutional and hematologic setting.
  • Appreciate the complexity of interpretation of whole genome array data.
  • Appreciate the different roles of various genetic technologies in the detection of recurrent and clinically significant changes.

Sponsored by:

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