101141-0
NAT2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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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
Fully-Specified Name
- Component
- NAT2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
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
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.74
- Last Updated
- Version 2.75
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen NAT2 Analisis de mutaciones: |
| fr-FR | French (France) | NAT2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | NAT2, gene analisi di mutazione mirata: Synonyms: Farmacogenomica Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | NAT2-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
| zh-CN | Chinese (China) | NAT2 基因 突变分析: Synonyms: N-乙酰基转移酶 2 基因; |
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