Version 2.78

Part Description

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

Fully-Specified Name

Component
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
t(9;22)(ABL1,BCR) Bld/T Ql
Display Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript Molgen Ql (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 1.0m
Last Updated
Version 2.73
Change Reason
Updated Component part to harmonize with ISCN guidelines and current LOINC nomenclature.
Order vs. Observation
Observation
Common Test Rank Get Info
3813

Member of these Panels

LOINC Long Common Name
72103-5 Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: BCR-ABL t(9,22)
es-AR Spanish (Argentina) translocación del gen t(9,22) (abl1,bcr):arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) t(9;22)(q34.1;q11)(ABL1,BCR) Tránscritos de fusión:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) t (9; 22) (q34.1; q11) (ABL1, BCR) transcripción de fusión:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
fr-CA French (Canada) t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion:Arbitraire:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
it-IT Italian (Italy) t(9;22)(q34.1;q11)(ABL1,BCR), trascritto di fusione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Traslocazione genetica
ko-KR Korean (Korea, Republic Of) t(9,22)(ABL1,BCR) 유전자 전위:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) t(9;22)(q34.1;q11)(ABL1,BCR) fusietranscript:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) t(9,22)(AcL1,BCR) translocação do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Philadelphia chromosome; t(9,22)(q34,q11); Ph chromosome; T prime; ALL; BCR1; Chronic myeloid leukemia; CML; Breakpoint cluster region; D22S11; D22S662; PHL; v-Acl Acelson murine leukemia viral oncogene homolog 1; AcL; JTK7; p150; MOLPATH.TRANSLOCATION; MOLPATH.TRANSLOCATION; Molecular pathology
ru-RU Russian (Russian Federation) t(9;22)(q34.1;q11)(ABL1,BCR) слияния транскрипт:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент химерная РНК, закодированная слитым геном
tr-TR Turkish (Turkey) t(9;22)(q34.1;q11)(ABL1,BCR) füzyon transkript:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ABL CML 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 任意;任意的;人工型 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 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 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21821-4