GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Department of Genetics University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Leukemia. 2019 Aug;33(8):1851-1867. doi: 10.1038/s41375-019-0378-z. Epub 2019 Jan 29.
Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management of patients with haematological neoplasms. The widespread implementation of these techniques in genetic diagnostics has highlighted the need for guidance on the essential criteria to follow when providing cytogenomic testing, regardless of choice of methodology. These recommendations provide an updated, practical and easily available document that will assist laboratories in the choice of testing and methodology enabling them to operate within acceptable standards and maintain a quality service.
血液系统肿瘤的细胞遗传学研究，包括染色体带分析、荧光原位杂交（FISH）和微阵列分析，在血液系统肿瘤患者的临床管理中变得越来越重要。这些技术在遗传诊断中的广泛应用凸显了在提供细胞遗传学检测时遵循基本标准的指导的必要性，而不论选择哪种方法。这些建议提供了一个更新的、实用的和易于获取的文件，将帮助实验室选择测试和方法，使他们能够在可接受的标准内运作，并保持高质量的服务。
