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LOINC Names Get Info

Fully-Specified Name
SMN1 gene+SMN2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
SMN1 gene+SMN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
SMN1+SMN2 gene Mut Anl Bld/T
Display Name
SMN1 gene+SMN2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
SMN1 gene+SMN2 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    SMN1 gene+SMN2 gene targeted mutation analysis
    LP229638-4
    • Analyte
      SMN1 gene+SMN2 gene targeted mutation analysis
      LP229638-4
      • Component Numerator
        SMN1 gene+SMN2 gene targeted mutation analysis
        LP229638-4
        • Component Numerator Core
          SMN1 gene+SMN2 gene
          LP64932-4
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73 (MIN)
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
5589

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)فحص الطفرات المستهدفة للجينات SMN1 و SMN2 في الدم أو الأنسجة ( بتقنية الوراثة الجزيئية )
cs-CZCzech (Czechia)Gen SMN1+SMN2 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SMN1+γονίδιο SMN2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SMN1 Γονίδιο SMN1+γονίδιο SMN2 Γονίδιο SMN2 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen SMN1+Gen SMN2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen SMN1 + gen SMN2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)SMN1+SMN2 gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)SMN1, gene+SMN2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene SMN1 Gene SMN1+Gene SMN2 Gene SMN2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SMN1 gen + SMN2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen SMN1 gen SMN1 gen+SMN2 gen SMN2 gen targeted
pl-PLPolish (Poland)SMN1 gen+SMN2 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genów SMN1 i SMN2 Analiza mutacji genu SMN2 diagnostyka molekularna Gen SMN1 Gen SMN2 Geny SMN1 i SMN2
pt-BRPortuguese (Brazil)SMN1 gene+SMN2 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: survival of motor neuron 2, centromeric; C-BCD541; Gemin-1; SMNC; SMNT; BCD541; SMN; SMN1+SMN2 gene; SMA@; SMA gene; spinal muscular atrophy; Werdnig-Hoffmann disease; Kugelberg-Welander disease; SMA1; SMA2; SMA3; SMV; Gemin 1; Survival motor neuron protein gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)SMN1 ген+SMN2 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)SMN1 geni+SMN2 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)SMN1 基因+SMN2 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: BCD541;Gemin 1;Kugelberg-Welander 病;SMA1;SMA2;SMA3;SMN;SMN 蛋白基因;SMV;Werdnig-Hoffmann 病;少年型家族性进行性脊肌萎缩症;少年型脊肌萎缩症;脊肌萎缩症;运动神经元存活蛋白基因;运动神经元生存蛋白基因 BCD541;SMN;SMNC;SMNT;着丝粒运动神经元生存基因;运动神经元生存 2, 着丝点;运动神经元生存 2, 着丝点性;运动神经元生存 2, 着丝粒;运动神经元生存 2, 着丝粒性;运动神经元生存基因 2 SMN1+SMN2 基因 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 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 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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