Version 2.78

Part Descriptions

LP200476-2   inv(2)(p21;p23)(EML4,ALK)
The inversion on chromosome 2 resulting in the fusion of genes EM4L [HGNC ID: 1316] and ALK [HGNC Gene ID: 427] is a chromosomal abnormality found in various histologic types of non-small-cell lung cancer (NSCLC). The fusion encodes for the EML4-ALK protein, which promotes and maintains cancer cell growth. The detection of EML4-ALK may be useful for predicting the potential response to ALK inhibitors as a therapeutic option for patients with lung cancer. PMID: 19170230 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
inv(2)(p21;p23)(EML4,ALK) fusion transcript
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
inv(2)(EML4,ALK) Bld/T Ql FISH
Display Name
inv(2)(p21;p23)(EML4,ALK) fusion transcript FISH Ql (Bld/Tiss)
Consumer Name Alpha Get Info
inv(2)(p21;p23)(EML4,ALK) fusion transcript analysis, Blood or tissue specimen

Example Answer List: LL360-9

Source: Regenstrief Institute
Answer Code Score Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6

Basic Attributes

Class
MOLPATH.INV
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) inv(2)(p21;p23)(EML4,ALK) Tránscritos de fusión:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) transcrito de fusión inv (2) (p21; p23) (EML4, ALK):Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) inv(2)(p21;p23)(EML4,ALK) transcrit de fusion:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
fr-CA French (Canada) inv(2)(p21;p23)(EML4,ALK) transcrit de fusion:Présence-Seuil:Temps ponctuel:Sang/Tissu:Ordinal:Hybridation fluorescente in situ
it-IT Italian (Italy) inv(2)(p21;p23)(EML4,ALK), trascritto di fusione:PrThr:Pt:Sangue/Tess:Ord:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Inversione genetica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) inv(2)(p21;p23)(EML4,ALK) fusietranscript:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
tr-TR Turkish (Turkey) inv(2)(p21;p23)(EML4,ALK) füzyon transkript:MevcEşik:Zmlı:Kan/Dk:Srl:FISH
Synonyms: Mevcut
zh-CN Chinese (China) inv(2)(p21;p23)(EML4,ALK) 融合转录物:存在情况或阈值:时间点:全血/组织:序数型:FISH
Synonyms: Ⅱ Fluorescent in situ hybridization;荧光原位杂交 II 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 倒位(2)(p21;p23)(EML4,ALK);基因倒位;基因倒置;倒位;倒置;gene inversion 全血或组织;血液/组织;血液或组织 分子病理学.基因倒位;分子病理学试验.基因倒位;分子病理学试验类.倒位 分子病理学;分子病理学试验 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况(存在、存在与否、是否存在)或阈值(界值、界限、阀值、临界值) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 融合转录物(转录本、转录产物、转录子、转录);融合基因转录本;融合转录 血;血液 间变型淋巴瘤激酶 间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79206-9