93418-2
(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript [Presence] in Tissue by Molecular genetics method
Active
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.
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
- Long Common Name
- (8;8)(q13;q21)(HEY1,NCOA2) fusion transcript [Presence] in Tissue by Molecular genetics method
- Short Name
- (8;8)(HEY1,NCOA2) Tiss Ql
- Display Name
- (8;8)(q13;q21)(HEY1,NCOA2) fusion transcript Molgen Ql (Tiss)
- Consumer Name Alpha Get Info
- (8;8)(q13;q21)(HEY1,NCOA2) fusion transcript analysis, Tissue
Example Answer List: LL744-4
Source: Regenstrief InstituteAnswer | 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 (ADD)
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | (8; Synonyms: (8; |
es-ES | Spanish (Spain) | (HEY1, NCOA2) (8; |
es-MX | Spanish (Mexico) | (8; |
fr-FR | French (France) | t(8; |
fr-CA | French (Canada) | (8; |
it-IT | Italian (Italy) | (8; Synonyms: Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Tessuto & |
zh-CN | Chinese (China) | (8; Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=93418-2
LOINC Copyright
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