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Term Description

Used to report the major (p210), minor (p190), and micro (p230) BCR-ABL1 breakpoints, which together account for the vast majority of BCR-ABL1 gene fusion events in CML and ALL.

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

LOINC Names Get Info

Fully-Specified Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
t(9;22)(ABL1,BCR) break pts Bld/T
Display Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
t(9;22)(q34.1;q11)(ABL1,BCR) break point analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points
    LP229771-3
    • Analyte
      t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points
      LP229771-3
      • Component Numerator
        t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points
        LP229771-3
        • Component Numerator Core
          t(9;22)(q34.1;q11)(ABL1,BCR)
          LP150238-6
        • Component Numerator Core Suffix
          fusion transcript break points
          LP184360-8
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2969-5

Source: Genoptix Medical Lab
AnswerCodeScoreAnswer ID
Major (p210)LA21317-5
Minor (p190)LA21318-3
Micro (p230)LA21319-1
InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1

Basic Attributes

Class
MOLPATH.TRNLOC
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.50 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fúzní transkript t(9;22)(q34.1;q11)(ABL1,BCR) body zlomu:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)t(9;22)(q34.1;q11)(ABL1,BCR) σημεία διακοπής μεταγραφών συγχώνευσης:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.TRNLOC Nom Prid Pt t(9;22)(q34.1;q11)(ABL1,BCR) Αίμα Αίμα/Ιστός Ιστός μεταγραφή συγχώνευσης Μοριακή γενετική σημεία διακοπής μεταγραφών συγχώνευσης
es-ESSpanish (Spain)t(9;22)(q34.1;q11)(ABL1,BCR) Puntos de ruptura transcrito de fusión:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)t (9; 22) (q34.1; q11) (ABL1, BCR) puntos de ruptura de la transcripción de fusión:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript points de rupture:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)t(9,22)(q34.1,q11)(ABL1,BCR), punti di rottura di trascritto di fusione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Traslocazione genetica
pl-PLPolish (Poland)t(9;22)(q34.1;q11)(ABL1,BCR) punkty przerwania transkryptu fuzyjnego:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
tr-TRTurkish (Turkey)t(9;22)(q34.1;q11)(ABL1,BCR) füzyon transkript kırılma noktaları:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物断裂点:存在与否或特征标识:时间点:全血/组织:名义型: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 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 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）断裂点（断点） 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=75892-0