LOINC
Version 2.67

70291-0inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Blood or Tissue by Molecular genetics methodActive

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)

Basic Attributes

Class
MOLPATH.INV
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.40
Order vs. Observation
Both

Example Answer List LL360-9

Source: Regenstrief Institute

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

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

zh-CNChinese (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
nl-NLDutch (NETHERLANDS)
inv(16)(p13.1;q22.1)(MYH11,CBFB) fusietranscript:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
fr-CAFrench (CANADA)
inv(16)(p13.1;q22.1)(MYH11,CBFB) , transcrit de fusion:Arbitraire:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
fr-FRFrench (FRANCE)
inv(16)(p13.1;q22.1)(MYH11,CBFB) transcrit de fusion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
de-ATGerman (AUSTRIA)
MYH11-CBFB Inversion 16 (p13.1,q22.1)
it-ITItalian (ITALY)
inv(16)(p13.1;q22.1)(MYH11,CBFB) , trascritto di fusione:Arb:Pt:Sangue/Tess:Ord:Molgen
pt-BRPortuguese (BRAZIL)
inv(16)(p13.1;q22.1)(MYH11,CBFB) слияния транскрипт:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
ru-RURussian (RUSSIAN FEDERATION)
inv(16)(p13.1;q22.1)(MYH11,CBFB) слияния транскрипт:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
es-ESSpanish (SPAIN)
inv(16)(p13.1;q22.1)(MYH11,CBFB) Tránscritos de fusión:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
tr-TRTurkish (TURKEY)
inv(16)(p13.1;q22.1)(MYH11,CBFB) füzyon transkript:Sç:Zmlı:Kan/Dk:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=70291-0