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Part Descriptions

LP71423-5   GAA gene
The GAA gene is located on chromosome 17q25.3 and encodes acid alpha-1,4-glucosidase, a lysosomal enzyme involved in the degradation of glycogen. GAA mutations are associated with glycogen storage disease II, which in its infantile form is known as Pompe disease, an autosomal recessive disorder associated with hypotonia and cardiomyopathy. The juvenile and adult forms of glycogen storage disease II primarily affect skeletal muscle. [OMIM: 232300] Source: Regenstrief LOINC, OMIM: 232300

LP71423-5   GAA gene
The GAA gene (glucosidase, alpha; acid) [HGNC Gene ID:4065] is located on chromosome 17q25.2-q25.3. This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2548] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    GAA gene targeted mutation analysis
    LP228493-5
    • Analyte
      GAA gene targeted mutation analysis
      LP228493-5
      • Component Numerator
        GAA gene targeted mutation analysis
        LP228493-5
        • Component Numerator Core
          GAA gene
          LP71423-5
        • 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 2.26
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
7724

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen GAA cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο GAA στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο GAA Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen GAA Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen GAA:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CAFrench (Canada)Gène GAA ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FRFrench (France)GAA gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)GAA, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene GAA Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)GAA-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: GAA gen molgen targeted
pl-PLPolish (Poland)GAA gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu GAA diagnostyka molekularna Gen GAA
pt-BRPortuguese (Brazil)GAA análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: 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)GAA 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)GAA geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)GAA 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: LYAG;acid alpha-glucosidase;acid maltase;alpha-glucosidase;glycogen storage disease type II;lysosomal alpha-glucosidase;glucosidase, alpha;酸性 alpha-葡萄糖苷酶;酸性麦芽糖酶;alpha-葡萄糖苷酶;alpha-葡糖苷酶;糖原贮积症 II 型;糖原过多症 II 型;冯吉尔克病 II 型;溶酶体 alpha-葡萄糖苷酶;葡萄糖苷酶, alpha;酸性 α-葡萄糖苷 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53864-5