European guidelines for constitutional cytogenomic analysis. (January 2019)

• Record Type: Journal Article
• Authors: Silva, Marisa; Leeuw, Nicole; Mann, Kathy; Schuring-Blom, Heleen; Morgan, Sian; Giardino, Daniela; Rack, Katrina; Hastings, Ros
• Is Part Of: European journal of human genetics. Volume 27:Number 1(2019)
• Page Start: 1
• Page End: 16
• Publication Date: 2019-01
• Subjects: Human genetics -- Periodicals; Medical genetics -- Periodicals; 616.042
• DOI: 10.1038/s41431-018-0244-x
• Languages: English
• ISSNs: 1018-4813

Abstract

Abstract With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.