Status Information

Status
DEPRECATED
Reason
Duplicate
Comment
Term is erroneous. Insertion of guanine (G) at nucleotide 84 is described at coding level.
Map-ToLong Common NameMapping Guidance
35689-9GBA gene c.84insG [Presence] in Blood or Tissue by Molecular genetics method

LOINC Names Get Info

Fully-Specified Name
GBA gene.g.S84GG:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
Deprecated GBA gene.g.S84GG [Presence] in Blood or Tissue by Molecular genetics method
Short Name
Deprecated GBA g.S84GG Bld/T Ql
Display Name
GBA gene.g.S84GG Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
GBA gene.g.S84GG, Blood or tissue specimen

Part Model Get Info

  • Component
    GBA gene.g.S84GG
    LP33562-7
    • Analyte
      GBA gene.g.S84GG
      LP33562-7
      • Component Numerator
        GBA gene.g.S84GG
        LP33562-7
        • Component Numerator Core
          GBA gene.g.S84GG
          LP33562-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.40 (DEL)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen GBA.g.S84GG:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο GBA g.S84GG:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb G MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο GBA Γονίδιο GBA g.S84GG Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-ESSpanish (Spain)Gen GBA .g.S84GG:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)GBA gene.g.S84GG:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
it-ITItalian (Italy)GBA, gene.g.S84GG:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene GBA Gene GBA.g.S84GG Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)GBA유전자.g.S84GG:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)GBA-gen.g.S84GG:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: GBA gen GBA gen.g.S84GG molgen
pl-PLPolish (Poland)GBA gen.g.S84GG:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen GBA Gen GBA g.S84GG
pt-BRPortuguese (Brazil)GBA gene.g.S84GG:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; GBA g.S84GG; Gaucher disease; Glucocerebrosidase gene; GBA1 (LL); GC (SP); GLUC (LL); Beta glucosidase gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)GBA ген.g.S84GG:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)GBA geni.g.S84GG:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)GBA 基因.g.S84GG:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Beta 葡糖苷酶基因;Gaucher 氏病;Gaucher 病;Gauchers 氏病;Gauchers 病;GBA1 (LL);GC (SP);GLUC (LL);β葡糖苷酶基因;戈谢氏病;戈谢病;葡糖脑苷脂酶基因;高雪氏症;高雪病;高雪症 G 型 GBA g.S84GG 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 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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