Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
Department of Human Genetics, Nijmegen Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet. 2019 Jan;27(1):1-16. doi: 10.1038/s41431-018-0244-x. Epub 2018 Oct 1.
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.
随着技术的进步，以及分子遗传学技术（例如微阵列、下一代测序）在特定情况下的应用越来越广泛，分辨率也越来越高，再加上染色体疾病诊断的联合检测策略的应用，细胞遗传学/基因组学服务必须跟上技术的发展步伐，拥有提供指导的文件，以应对这种不断变化的情况。因此，这些新指南旨在提供一份更新的、实用的、易于获取的文件，使遗传实验室能够在可接受的标准内运作，并保持高质量的服务。
