95124-4
Sarcoma targeted gene fusion transcript analysis in Tissue by Sequencing
Active
Term Description
Evaluation of multiple gene fusion transcripts by sequence analysis, such as by next-generation sequencing, to detect the presence of somatic sarcoma-related gene fusions in a tissue specimen. Testing is performed for the diagnosis of specific soft tissue and bone tumors (sarcomas) based on the detected gene fusions. For example, a fusion between PAX3 and FOXO1 genes indicates an alveolar rhabdomyosarcoma and the EWSR1-FLI1 gene fusion is a present in Ewing's sarcomas. The overall result summary (fusion detected/not detected) along with information about the fusions identified, fusions targeted/tested, interpretation, testing method(s) and recommendations are typically included in the report.
Source: Regenstrief LOINC
Part Description
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Sarcoma targeted gene fusion transcript analysis
- Property
- Find
- Time
- Pt
- System
- Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- Sarcoma gene fusion analysis Tiss Seq
- Display Name
- Sarcoma targeted gene fusion analysis Sequencing Doc (Tiss)
- Consumer Name Alpha Get Info
- Sarcoma targeted gene fusion analysis, Tissue
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Análisis de transcripciones de fusión de genes dirigidos al sarcoma: |
| es-MX | Spanish (Mexico) | Análisis de transcripciones de fusión de genes dirigidos al sarcoma: |
| fr-FR | French (France) | Sarcome transcrit de fusion gène cible: |
| it-IT | Italian (Italy) | Sarcoma, analisi trascrizione della fusione mirata del gene: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Tessuto & |
| nl-NL | Dutch (Netherlands) | sarcoomgerichte genfusietranscriptanalyse: |
| zh-CN | Chinese (China) | 针对肉瘤的基因融合转录本分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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