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Part Description

LP63593-5   PAH gene
The PAH gene (phenylalanine hydroxylase) [HGNC Gene ID:8582] is located on chromosome 12q22-q24.2. PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5053] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    PAH gene full mutation analysis
    LP432662-7
    • Analyte
      PAH gene full mutation analysis
      LP432662-7
      • Component Numerator
        PAH gene full mutation analysis
        LP432662-7
        • Component Numerator Core
          PAH gene
          LP63593-5
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • 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
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PAH kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PAH πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PAH Εύρεση Ιστός Μοριακή γενετική πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen PAH Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FRFrench (France)PAH gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)PAH, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene PAH Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)PAH-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PAH gen
pl-PLPolish (Poland)PAH gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PAH;gen hydroksylazy fenyloalaninowej
ru-RURussian (Russian Federation)PAH ген полный мутация анализ:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань полное исследование на мутацию Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)PAH geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)PAH 基因 全面突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: PKU;苯丙氨酸羟化酶基因;Phenylalanine hydroxylase gene 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;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 完整突变分析;综合突变分析 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=101391-1