Stevens-Kroef Marian, Simons Annet, Rack Katrina, Hastings Rosalind J
Department of Human Genetics, Radboud University Medical Center, 9101, 6500 HB, Nijmegen, The Netherlands.
Cytogenetic External Quality Assessment, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Methods Mol Biol. 2017;1541:303-309. doi: 10.1007/978-1-4939-6703-2_24.
A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ hybridization and microarray. The International System for Human Cytogenomic Nomenclature (ISCN) is the central reference for the description of karyotyping, FISH, and microarray results, and provides rules for describing cytogenetic and molecular cytogenetic findings in laboratory reports. These laboratory reports are documents to the referring clinician, and should be clear, accurate and contain all information relevant for good interpretation of the cytogenetic findings. Here, we describe guidelines for cytogenetic nomenclature and laboratory reports for cytogenetic testing applied to tumor samples.
标准化命名法对于准确且一致地描述通过核型分析、荧光原位杂交和微阵列鉴定出的基因组变化至关重要。国际人类细胞基因组命名系统（ISCN）是描述核型分析、荧光原位杂交和微阵列结果的核心参考标准，并为在实验室报告中描述细胞遗传学和分子细胞遗传学发现提供规则。这些实验室报告是提供给转诊临床医生的文件，应清晰、准确且包含所有与细胞遗传学发现的良好解读相关的信息。在此，我们描述适用于肿瘤样本的细胞遗传学命名法指南以及细胞遗传学检测的实验室报告。
