Advancements in genetic testing in infancy

Recent advances in Genetic Medicine are changing the landscape of testing available in the neonatal period. A move away from karyotype to microarray CGH testing, as first line chromosomal testing, has markedly improved diagnostic yield. This enhanced chromosomal testing, combined with the increased use of high-throughput sequencing of multiple genes, or of the whole exome (all protein coding genes), shows promise of a new era of diagnosis for genetic conditions, which present in infancy. This article provides an overview of the current genetic tests available in the neonatal setting, looks to the future of testing in the field and highlights important points to consider when undertaking genetic testing.