21822-2

t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method

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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 major break points
Property: Arb
Time: Pt
System: Bld/Tiss
Scale: Ord
Method: Molgen

Additional Names

Short Name: t(9;22)(ABL1,BCR) Major Bld/T Ql
Display Name: t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info: t(9;22)(q34.1;q11)(ABL1,BCR) major break point 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.; Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation: Both
Common Test Rank Get Info: 8094

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	puntos de rupturas mayores de 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) punto de rotura mayor del transcrito de fusion:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX	Spanish (Mexico)	t (9; 22) (q34.1; q11) (ABL1, BCR) puntos de ruptura principales de la 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 point de rupture majeur:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	t(9;22)(q34.1;q11)(ABL1,BCR) , punti di rottura principali di trascritto di fusione:Arb:Pt:Sangue/Tess:Ord:Molgen Synonyms: Arbitrario Genetica molecolare Patologia molecolare Punti di rottura maggiori di traslocazione t(9,22)(ABL1,BCR) 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 주변 곡점:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL	Dutch (Netherlands)	t(9;22)(q34.1;q11)(ABL1,BCR) fusietranscript major breakpoints:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek Synonyms: molgen
pt-BR	Portuguese (Brazil)	t(9,22)(AcL1,BCR) translocação do gene maior ponto de quebra:Arb:Pt:Sg/Tecido:Ord:Genética molecular Synonyms: ; t(9,22)(AcL1,BCR) Maj; 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; Mbr; 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 major break points:Произв:ТчкВрм:Кр/Тк:Пор:МолГен Synonyms: Кровь Кровь или Ткань Порядковый Произвольный слияния транскрипт мажорная точка разрыва 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 transkriptt major kırılma noktaları:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN	Chinese (China)	t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物主要断裂点: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 Mbr p150 T(9,22)(ABL1,BCR) 基因易位主要断裂点 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 主要断点（Major break points，Mbr）主要断点区主要断点区（major breakpoint region, mbr）主要断点类主要断裂区主要断裂区（major breakpoint region, mbr）主要断裂点主要断裂点（Major break points，Mbr）主要断裂点类任意;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;融合转录融合转录物（转录本、转录产物、转录子、转录）主要断裂点;融合基因转录本主要断裂点;融合转录本主要断点血;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 © 1995-2024, 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.