70291-0

inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method

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Term Description

This term is used to identify a leukemia causing inversion on chromosome 16 resulting in gene fusion between CBFB (16q22) and MYH11 (16p13) genes. The term was created for (but not limited to) DNA Technology's HemaVision HV01-28N kit, a qualitative in vitro diagnostic test for 28 leukemia causing chromosomal alterations including more than 80 breakpoints plus associated mRNA splice variants. Reverse transcription followed by multiplex nested polymerase chain reactions (RT-PCR) and agarose gel electrophoresis are used to identify gene fusions caused by chromosomal translocations, gene deletions or inversions. Testing information is useful for predicting development of the disease and selection of treatment.
Source: Regenstrief LOINC

Part Description

LP146062-7 inv(16)(p13.1;q22.1)(MYH11,CBFB)
The inv(16)(p13.1;q22.1) CBFB-MYH11 fusion transcript is a chromosomal abnormality associated with acute myelomonocytic leukemia (AML). This results in the formation of a chimeric protein between core binding factor beta and smooth muscle myosin heavy chain 11. Positive results are indicative of AML subtype M4E0. Source: Regenstrief LOINC

Fully-Specified Name

Component: inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript
Property: Arb
Time: Pt
System: Bld/Tiss
Scale: Ord
Method: Molgen

Additional Names

Short Name: inv(16)(p13;q22) Bld/T Ql
Display Name: inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info: inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript analysis, Blood or tissue specimen

Example Answer List: LL360-9

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6

Basic Attributes

Class: MOLPATH.INV
Type: Laboratory
First Released: Version 2.40
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 5684

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: MYH11-CBFB Inversion 16 (p13.1;q22.1)
es-ES	Spanish (Spain)	inv(16)(p13.1;q22.1)(MYH11,CBFB) Tránscritos de fusión:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX	Spanish (Mexico)	transcripción de fusión inv (16) (p13.1; q22.1) (MYH11, CBFB):Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-CA	French (Canada)	inv(16)(p13.1;q22.1)(MYH11,CBFB) transcrit de fusion:Arbitraire:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
fr-FR	French (France)	inv(16)(p13.1;q22.1)(MYH11,CBFB) transcrit de fusion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	inv(16)(p13.1;q22.1)(MYH11,CBFB), trascritto di fusione:Arb:Pt:Sangue/Tess:Ord:Molgen Synonyms: Arbitrario Genetica molecolare Inversione genetica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	inv(16)(p13.1;q22.1)(MYH11,CBFB) fusietranscript:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek Synonyms: molgen
pt-BR	Portuguese (Brazil)	inv(16)(p13.1;q22.1)(MYH11,CBFB) transcrição de fusão::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU	Russian (Russian Federation)	inv(16)(p13.1;q22.1)(MYH11,CBFB) 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)	inv(16)(p13.1;q22.1)(MYH11,CBFB) füzyon transkript:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN	Chinese (China)	inv(16)(p13.1;q22.1)(MYH11,CBFB) 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: 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;顺序型倒位(16)(p13.1;q22.1)(MYH11,CBFB);基因倒位;基因倒置;倒位;倒置;gene inversion 全血或组织;血液/组织;血液或组织分子病理学.基因倒位;分子病理学试验.基因倒位;分子病理学试验类.倒位分子病理学;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;聚合酶链式反应时刻;随机;随意;瞬间未作说明的组织;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

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