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Part Description

LP190764-3   FUS gene
The FUS gene (FUS RNA binding protein) [HGNC Gene ID: 4010] is located on chromosome 16p11.2. This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009][NCBI Gene ID: 2521] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
FUS gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
FUS gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
FUS gene Mut Bld/T Mut Anl
Display Name
FUS gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
FUS gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    FUS gene mutations
    LP452189-6
    • Analyte
      FUS gene mutations
      LP452189-6
      • Component Numerator
        FUS gene mutations
        LP452189-6
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL3611-2

Source: Online Mendelian Inheritance in Man®
Link to External List
http://www.omim.org/allelicVariant/137070
AnswerCodeScoreAnswer ID
p.His517GlnLA23960-0
p.Arg518LysLA23963-4
p.Arg521CysLA23962-6
p.Gly206SerLA23961-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FUS cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FUS στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο FUS Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen FUS:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen FUS Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)FUS gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)FUS, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)FUS-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: FUS gen molgen targeted
pl-PLPolish (Poland)FUS gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu FUS diagnostyka molekularna Gen FUS wynik kategorialny
tr-TRTurkish (Turkey)FUS geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)FUS 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: FUS RNA 结合蛋白;异质性细胞核核糖核蛋白 P2;75 KDa DNA-配对蛋白;癌基因 FUS;癌基因 TLS;融合 (参与恶性脂肪肉瘤中的 T(12;16));融合, 源自 T(12;16) 恶性脂肪肉瘤;粘液样脂肪肉瘤融合基因;肌萎缩侧索硬化 6;RNA-结合蛋白 FUS;Fus-样蛋白;FUS RNA Binding Protein;Heterogeneous Nuclear Ribonucleoprotein P2;Translocated In Liposarcoma Protein;7 TLS 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 脂肪肉瘤之中的易位 脂肪肉瘤之中的易位（Translocation in liposarcoma，Translocated in liposarcoma，TLS） 血;血液 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=77634-4