Advances in Genetic Testing and Applications in Newborn Medicine

Abstract

Objectives After completing this article, readers should be able to: 1. Recognize the application of new approaches to cytogenetic diagnosis. 2. Know when to consider ordering routine chromosomal analysis, fluorescence in situ hybridization, or array comparative genomic hybridization. 3. Be familiar with various approaches to molecular diagnosis and the factors to consider in ordering testing. 4. Describe the role of genomic imprinting in disease in newborns and the possibility of genetic testing.