Version 2.77

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

Fully-Specified Name

NAT2 gene targeted mutation analysis

Additional Names

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

Example Answer List: LL6293-6

Source: Regenstrief Institute
Answer Code Score Answer ID
NAT 2*4/*4 LA33596-0
NAT 2*4/*5 LA33597-8
NAT2*4/*6 LA33598-6
NAT2*4/*7 LA33599-4
NAT2*4/*10 LA33600-0
NAT2*4/*12D LA33601-8
NAT2*4/*14 LA33602-6
NAT2*4/*17 LA33603-4
NAT2*4/*19 LA33604-2

Basic Attributes

First Released
Version 2.74
Last Updated
Version 2.75
Order vs. Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen NAT2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) NAT2 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (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-NL Dutch (Netherlands) NAT2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (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

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

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