44703-7
MC4R gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP36763-8 MC4R gene
The MC4R gene (melanocortin 4 receptor) [HGNC Gene ID:6932] is located on chromosome 18q22. The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] [NCBI Gene ID:4160]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MC4R gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- MC4R gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- MC4R gene Mut Anl Bld/T
- Display Name
- MC4R gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MC4R 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 MC4R στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο MC4R Εύρεση |
es-ES | Spanish (Spain) | Gen MC4R Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MC4R: |
fr-FR | French (France) | MC4R gène mutation cible trouvée: |
it-IT | Italian (Italy) | MC4R, gene analisi di mutazione mirata: Synonyms: Gene MC4R Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MC4R-gen doelgerichte mutatie-analyse: Synonyms: MC4R gen molgen targeted |
pt-BR | Portuguese (Brazil) | MC4R análise de mutação genética: Synonyms: Melanocortin-4 receptor; |
ru-RU | Russian (Russian Federation) | MC4R ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | MC4R geni Mutasyon analizi: |
zh-CN | Chinese (China) | MC4R 基因 突变分析: Synonyms: Melanocortin-4 受体; |
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=44703-7
LOINC Copyright
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