Version 2.77

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
PrThr
Time
Pt
System
Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
t(9;22)(ABL1,BCR) Mar Ql
Display Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript Molgen Ql (BM)
Consumer Name Alpha Get Info
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript analysis, Bone marrow

Example Answer List: LL3950-4

Source: Regenstrief LOINC
Answer Code Score Answer ID
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
AbsentCopyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2

Basic Attributes

Class
MOLPATH.TRNLOC
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) t(9;22)(q34.1;q11)(ABL1,BCR) Tránscritos de fusión:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
es-MX Spanish (Mexico) t (9; 22) (q34.1; q11) (ABL1, BCR) transcripción de fusión:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
fr-FR French (France) t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) t(9;22)(q34.1;q11)(ABL1,BCR) , trascritto di fusione:PrThr:Pt:Mid oss:Ord:Molgen
Synonyms: Genetica molecolare Midollo osseo Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Traslocazione genetica
nl-NL Dutch (Netherlands) t(9;22)(q34.1;q11)(ABL1,BCR) fusietranscript:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
ru-RU Russian (Russian Federation) t(9;22)(q34.1;q11)(ABL1,BCR) слияния транскрипт:PrThr:ТчкВрм:Костный мозг:Пор:МолГен
Synonyms: Порядковый Точка во времени;Момент химерная РНК, закодированная слитым геном
tr-TR Turkish (Turkey) t(9;22)(q34.1;q11)(ABL1,BCR) füzyon transkript:MevcEşik:Zmlı:Kem il:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物:存在情况或阈值:时间点:骨髓: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 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 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 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） 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) 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 限制性断裂区 骨骼;骨头 髓

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82904-4