title: Cytogenetic Nomenclature and Reporting.
abstract: 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.
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, 9101, 6500 HB, Nijmegen, The Netherlands. Marian.Stevens-Kroef@radboudumc.nl.
authors.forename: Marian
authors.initials: M
authors.lastname: Stevens-Kroef
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: Annet
authors.initials: A
authors.lastname: Simons
authors.affiliation: Cytogenetic External Quality Assessment, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
authors.forename: Katrina
authors.initials: K
authors.lastname: Rack
authors.affiliation: Cytogenetic External Quality Assessment, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
authors.forename: Rosalind J
authors.initials: RJ
authors.lastname: Hastings
mesh_terms: D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping / Q000379:methods; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D009626:Terminology as Topic
keywords: Diagnostic reports; FISH; Karyotyping; Microarray; Nomenclature