Chromosome Conundrums: Challenges in Chromosomal Microarray Interpretation
Tuesday, January 15, 2013 12:00 PM - 1:00 PM (Pacific Time)
Presented by: Karen Tsuchiya, MD
Director of Cytogenetics, Seattle Children’s Hospital
Associate Professor of Laboratory Medicine, University of Washington Medical Center
Chromosomal microarrays have replaced G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with developmental delay, autism spectrum disorders, or multiple congenital anomalies. Yet despite their superior resolution and ability to uncover abnormalities/entities that are not detectable by conventional cytogenetics, chromosomal microarrays are not without their own limitations and challenges. In this lecture, Dr. Tsuchiya will describe the utility of current SNP-based microarrays in clinical testing, and some of the challenges associated with this testing, particularly in the area of result interpretation and reporting.