Version 2.78

Part Descriptions

LP157583-8   Subtelomere analysis.long arm
Telomeres are DNA-protein structures located at the end of each chromosome and containing long stretches of (TTAGGG) in repeats of variable length (3-20kb). They protect chromosomes from deterioration and prevent fusion with other chromosomes. The region adjacent to the telomeric repeats is called the subtelomere, which also contains segments of repetitive stretches of DNA. Subtelomeres are found to be relatively gene-rich due to frequent duplication and recombination events. Deletions and rearrangements in subtelomere regions have been associated with mental retardation and congenital abnormalities. Cytogenetic analysis of subtelomeres is difficult due to low resolution using conventional banding techniques. FISH probes specific for subtelomeric regions on both the long and short arms of chromosomes are useful for detecting subtle rearrangements. Source: Regenstrief LOINC

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

Fully-Specified Name

Component
Subtelomere analysis.long arm
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
FISH

Additional Names

Short Name
Subtelomere.q arm Bld/T FISH-Imp
Display Name
Subtelomere analysis.long arm FISH Nar (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Interpretation of Subtelomere analysis.long arm test result, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.61
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis de subtelómeros. Brazo largo:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Análisis subtelomérico brazo largo:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Analyse des subtélomères du bras long:Interprétation:Ponctuel:Sang/Tissu:Résultat textuel:FISH
it-IT Italian (Italy) Analisi subtelomerica.braccio lungo:Imp:Pt:Sangue/Tess:Nar:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) subtelomeer analyse.lange arm:interpretatie:moment:bloed of weefsel:tekstueel:FISH
pt-BR Portuguese (Brazil) Análise Subtelomero.braço longo::Pt:Sg/Tecido:Nar:FISH
tr-TR Turkish (Turkey) Alttelomer analizi.uzun kol:İzlnm:Zmlı:Kan/Dk:Öykü:FISH
zh-CN Chinese (China) 亚端粒分析.长臂:印象:时间点:全血/组织:叙述型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 全血或组织;血液/组织;血液或组织 分子病理学.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 分子病理学;分子病理学试验 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 次端粒分析.长臂;邻端粒分析.长臂 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=72652-1