LOINC
Version 2.72

93418-2(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript [Presence] in Tissue by Molecular genetics methodActive

Term Description

Testing is performed to detect HEY1-NCOA2 gene fusion transcripts in tissue (tumor) specimens by various molecular pathology methods for the diagnosis of mesenchymal chondrosarcoma, a rare sarcoma of bone and soft tissue.
Source: Regenstrief LOINC

Part Description

LP411313-2   (8;8)(q13;q21)(HEY1,NCOA2)
The HEY1-NCOA2 (8;8)(q13;q21) fusion transcript is associated with mesenchymal chondrosarcoma, a rare sarcoma of bone and soft tissues that account for 2-10% of primary chondrosarcomas. Wang et al found that 10 out of 15 examined mesenchymal chondrosarcomas carried the in-frame fusion of HEY1 to NCOA2. They suggested the fusion may occur due to an interstitial deletion or a t(8;8)(q13;q21) chromosomal translocation since both genes are located on the long arm of chromosome 8.[PMID:22034177] Source: Regenstrief LOINC

Fully-Specified Name

Component
(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript
Property
PrThr
Time
Pt
System
Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
(8;8)(HEY1,NCOA2) Tiss Ql
Display Name
(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript Molgen Ql (Tiss)
Consumer Name Alpha
(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript analysis, Tissue

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67
Order vs. Observation
Observation

Language Variants Get Info

zh-CNChinese (China)
(8;8)(q13;q21)(HEY1,NCOA2) 融合转录物:存在情况或阈值:时间点:组织与涂片:序数型:分子遗传学类实验室方法
fr-FRFrench (France)
t(8;8)(q13;q21)(HEY1,NCOA2) transcrit de fusion:Présence/Seuil:Ponctuel:Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
(8;8)(q13;q21)(HEY1,NCOA2) , trascritto di fusione:PrThr:Pt:Tessuto:Ord:Molgen
es-MXSpanish (Mexico)
(8; 8) (q13; q21) (HEY1, NCOA2) transcripción de fusión:Presencia o umbral:Punto temporal:Tejido y frotis:Ordinal:Genética molecular
es-ESSpanish (Spain)
(HEY1, NCOA2) (8; 8) (q13; q21) Tránscritos de fusión:PrThr:Punto temporal:Tejido:Ord:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93418-2