AB086. Chromosomal microarray analysis—detection of both duplication and deletion in patients with multiple congenital anomalies and/or developmental delay.

Abstract

Background and objective Chromosomal microarray analysis (CMA) is recommended as first-tier genetic testing for patients with multiple congenital anomalies, developmental delay/intellectual disability and/or autism spectrum disorder. It detects chromosomal imbalance at a higher resolution than conventional chromosomal analysis. CMA diagnostic service was launched in our hospital in February 2014. The aim of this report is to review the incidence of detecting both duplication and deletion in patients referred for this test.