43233-6
OTC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Description
LP19751-4 OTC gene
The OTC gene (ornithine carbamoyltransferase) [HGNC Gene ID:8512] is located on chromosome Xp21.1. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5009]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- OTC gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- OTC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- OTC gene Mut Anl Bld/T
- Display Name
- OTC gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- OTC gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.66 (MAJ)
- 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
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Γονίδιο OTC στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο OTC Εύρεση |
es-ES | Spanish (Spain) | Gen OTC Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas a genes OTC: |
fr-FR | French (France) | OTC gène mutation cible trouvée: |
it-IT | Italian (Italy) | OTC, gene analisi di mutazione mirata: Synonyms: Gene OTC Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | OTC-gen doelgerichte mutatie-analyse: Synonyms: molgen OTC gen targeted |
pt-BR | Portuguese (Brazil) | OTC análise de mutação genética: Synonyms: Ornithine transcarbamylase deficiency; |
ru-RU | Russian (Russian Federation) | OTC ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | OTC geni Mutasyon analizi: |
zh-CN | Chinese (China) | OTC 基因 突变分析: Synonyms: OTC 缺乏病; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=43233-6
LOINC Copyright
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