Version 2.77

Part Descriptions

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

LP63613-1   Microdeletion syndromes
Microdeletions are missing pieces of DNA that are beyond the resolution of routine cytogenetic techniques. Specific microdeletions are diagnostic of several clinical syndromes. Examples are Cri-du-chat, DiGeorge/Velocardiofacial syndrome, Kallman syndrome, Miller-Dieker syndrome, Prader-Willi syndrome (PWS), Smith-Magenis syndrome, Steroid sulfatase deficiency (x-linked Ichthyosis), Williams syndrome, Wolf-Hirschhorn syndrome, and Y Chromosome microdeletions. Source: Regenstrief Institute

Fully-Specified Name

Component
Microdeletion syndromes
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
Microdeletion synd Bld/T FISH
Display Name
Microdel syndromes FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Microdel syndromes, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
13052

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Síndromes por microdeleción:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Síndromes de microdeleción:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Syndromes de microdélétion:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) Microdelezioni, sindromi:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: Delezione genetica Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Sindromi da microdelezioni Tessuto & Strisci
nl-NL Dutch (Netherlands) microdeletie syndromen:bevinding:moment:bloed of weefsel:document:FISH
pt-BR Portuguese (Brazil) Sindromes de microdeleção:Ident:Pt:Sg/Tecido:Nar:FISH (hibridização in situ fluorescente)
Synonyms: ; Microdeletion synd; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; Fluorescent in situ hybridization; MOLPATH.DELETIONS; MOLPATH.DELETIONS; Molecular pathology
tr-TR Turkish (Turkey) Mikrodelesyon sendromları:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN Chinese (China) 微缺失综合征:发现:时间点:全血/组织:文档型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 微缺失（微缺失、微细缺失、微缺、微缺损、微删除、微丢失）综合征;Microdeletion syndromes 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=50020-7