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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.

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

LOINC Names Get Info

Fully-Specified Name
Sarcoma targeted gene fusion transcript analysis:Find:Pt:Tiss:Doc:Sequencing
Long Common Name
Sarcoma targeted gene fusion transcript analysis in Tissue by Sequencing
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

Part Model Get Info

  • Component
    Sarcoma targeted gene fusion transcript analysis
    LP418369-7
    • Analyte
      Sarcoma targeted gene fusion transcript analysis
      LP418369-7
      • Component Numerator
        Sarcoma targeted gene fusion transcript analysis
        LP418369-7
        • Component Numerator Core
          Sarcoma targeted gene fusion transcript analysis
          LP418369-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Tiss
    LP7641-6
    • System Core
      Tiss
      LP7641-6
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Sequencing
    LP150045-5

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Sarkom cílená analýza transkriptů fúzního genu:Nález:Časový bod:Tkáně a stěry:Dokument:Sekvenace
el-GRGreek (Greece)Ανάλυση μεταγραφών συγχώνευσης γονιδίων με στόχο το σάρκωμα:Εύρεση:Pt:Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH Pt Αλληλούχιση Ανάλυση μεταγραφών συγχώνευσης γονιδίων με στόχο το σάρκωμα Γονίδιο Εύρεση Ιστός
es-ESSpanish (Spain)Análisis de transcripciones de fusión de genes dirigidos al sarcoma:Hallazgo:Punto temporal:Tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de transcripciones de fusión de genes dirigidos al sarcoma:Hallazgo:Punto temporal:Tejido y frotis:Documento:Secuenciación
fr-FRFrench (France)Sarcome transcrit de fusion gène cible:Recherche:Ponctuel:Tissu:Document:Séquençage
it-ITItalian (Italy)Sarcoma, analisi trascrizione della fusione mirata del gene:Osservazione:Pt:Tessuto:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Tessuto & Strisci
nl-NLDutch (Netherlands)sarcoomgerichte genfusietranscriptanalyse:bevinding:moment:weefsel en uitstrijkjes:document:sequencing
pl-PLPolish (Poland)Analiza ukierunkowana na transkrypt genu fuzyjnego w mięsaku:stwierdzenie:punkt w czasie:tkanka i rozmazy:dokument:sekwencjonowanie
zh-CNChinese (China)针对肉瘤的基因融合转录本分析:发现:时间点:组织与涂片:文档型:序列测定
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=95124-4