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Part Description

LP433806-9   NAT2 gene targeted mutation analysis
N-acetyltransferase type 2 is one of the first and most studied enzyme for its pharmacogenetics traits and how they differ between individuals. It is a polymorphic phase 2 metabolic enzyme whose role is to combine hydrazine derivatives with acetyl groups in aromatic amine drugs, and in a number of toxins and carcinogens found in the diet, cigarette smoke, and the environment. In addition, possible correlations between the N-acetyl phenotype and human disease have been studied, and the most compelling of those associations include urinary bladder cancer and familial Parkinson's disease. PMID: 15932650 NAT2 has 36 known haplotype alleles that determine whether an individual is a fast, intermediate, or slow acetylator phenotype. The percentage of individuals who are slow acetylators is highest as one gets closer to the equator. Eighty percent of individuals close to the equator are slow acetylators, while only 10% of individuals located far from the equator are slow acetylators. PMID: 9255557 Isoniazid is the most effective treatment for tuberculosis and is acetylated by NAT2 to form a non-toxic metabolite. Slow acetylators taking isoniazid are at risk of hepatotoxicity. PMID: 9154882 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
NAT2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
NAT2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
NAT2 Mut Anl Bld/T
Display Name
NAT2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
NAT2 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    NAT2 gene targeted mutation analysis
    LP433806-9
    • Analyte
      NAT2 gene targeted mutation analysis
      LP433806-9
      • Component Numerator
        NAT2 gene targeted mutation analysis
        LP433806-9
        • Component Numerator Core
          NAT2 gene
          LP411721-6
        • 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

Example Answer List: LL6293-6

Source: Regenstrief Institute
AnswerCodeScoreAnswer ID
NAT 2*4/*4LA33596-0
NAT 2*4/*5LA33597-8
NAT2*4/*6LA33598-6
NAT2*4/*7LA33599-4
NAT2*4/*10LA33600-0
NAT2*4/*12DLA33601-8
NAT2*4/*14LA33602-6
NAT2*4/*17LA33603-4
NAT2*4/*19LA33604-2

Basic Attributes

Class
MOLPATH.PHARMG
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 NAT2 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο NAT2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.PHARMG Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο NAT2 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen NAT2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FRFrench (France)NAT2 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)NAT2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Farmacogenomica Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)NAT2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)NAT2 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu NAT2 diagnostyka molekularna Gen NAT2
zh-CNChinese (China)NAT2 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: N-乙酰基转移酶 2 基因;N-Acetyltransferase 2 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 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=101141-0