51867-0

t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by FISH

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Part Descriptions

LP150238-6 t(9;22)(q34.1;q11)(ABL1,BCR)
Chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML) are associated with the fusion of the breakpoint cluster gene (BCR) at chromosome 22q11 to the Abelson gene (ABL1) at chromosome 9q23. The t(9;22)(BCR-ABL1) gene translocation leads to the cytogenetic finding known as the Philadelphia chromsome (Ph'). Various breakpoints within the BCR and ABL1 genes have been described. Most cases of CML are due to a fusion of BCR exon 13 (e13 or b2) or BCR exon 14 (e14 or b3) to the ABL exon 2 (a2). The b2a2 (e13a2) and b3a2 (e14a2) fused transcripts, also known as major break points, produce a 210-kDa protein (p210). The fused transcript resulting in a 190-kDa protein (e1a2 or less common e1a3), also known as minor break points, is found in approximately 75% of childhood ALL patients and 50% of adult ALL patients. Other rarely reported fused transcripts include e6a2, e19a2 (p230), e13a3, and e14a3. 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: t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: FISH

Additional Names

Long Common Name: t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by FISH
Short Name: t(9;22)(ABL1,BCR) Bld/T FISH
Display Name: t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info: t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.TRNLOC
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Change Reason: Updated Component part to harmonize with ISCN guidelines and current LOINC nomenclature.; 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: 5367

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	t(9;22)(q34.1;q11)(ABL1,BCR) Tránscritos de fusión:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	t (9; 22) (q34.1; q11) (ABL1, BCR) transcripción de fusión:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-CA	French (Canada)	t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion:Observation:Temps ponctuel:Sang/Tissu:Document:Hybridation fluorescente in situ
fr-FR	French (France)	t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT	Italian (Italy)	t(9;22)(q34.1;q11)(ABL1,BCR), trascritto di fusione:Osservazione:Pt:Sangue/Tess:Doc:FISH Synonyms: Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Traslocazione genetica
nl-NL	Dutch (Netherlands)	t(9;22)(q34.1;q11)(ABL1,BCR) fusietranscript:bevinding:moment:bloed of weefsel:document:FISH
pt-BR	Portuguese (Brazil)	BCR-ABL:Ident:Pt:Sg/Tecido:Nar:FISH (hibridização in situ fluorescente) Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; Fluorescent in situ hybridization; ALL; BCR1; Chronic myeloid leukemia; CML; Breakpoint cluster region; D22S11; D22S662; PHL; MOLPATH.TRANSLOCATION; MOLPATH.TRANSLOCATION; Molecular pathology
tr-TR	Turkish (Turkey)	t(9;22)(q34.1;q11)(ABL1,BCR) füzyon transkript:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN	Chinese (China)	t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物:发现:时间点:全血/组织:文档型:FISH Synonyms: ABL CML Fluorescent in situ hybridization;荧光原位杂交 JTK7 p150 v-abl Abelson murine leukemia viral oncogene homolog 1 v-abl Abelson 小鼠白血病病毒癌基因同源体 1 v-abl Abelson 小鼠白血病病毒肿瘤基因同源体 1 v-abl Abelson 小鼠白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科动物白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科白血病病毒致癌基因同源体 1 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.基因易位;分子病理学.易位;分子病理学试验.基因易位;分子病理学试验.易位;分子病理学试验类.易位;基因易位分子病理学;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;结论慢性粒细胞性白血病慢性粒细胞白血病慢性粒细胞白血病（Chronic myeloid leukemia，CML）慢性髓系白血病断点簇集区断裂点丛集区断裂点簇集区断裂点聚集区断裂点集中区断裂点集中区（Breakpoint cluster region，BCR）时刻;随机;随意;瞬间易位(9;22)(q34.1;q11)(ABL1,BCR) 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;血液限制性断裂区

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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.