35359-9
AR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33180-8 AR gene
The AR gene (androgen receptor) [HGNC Gene ID:644] is located on chromosome Xq12. The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:367]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- AR gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- AR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- AR gene Mut Anl Bld/T
- Display Name
- AR gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- AR gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.66
- 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 |
|---|---|---|
| es-ES | Spanish (Spain) | Gen AR Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen AR.repetición de CAG: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen AR: |
| fr-FR | French (France) | AR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | AR, gene analisi di mutazione mirata: Synonyms: Gene AR Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | AR 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | AR-gen doelgerichte mutatie-analyse: Synonyms: AR gen molgen targeted |
| pt-BR | Portuguese (Brazil) | AR análise de mutação genética: Synonyms: Kennedy disease; |
| ru-RU | Russian (Russian Federation) | AR ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | AR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | AR 基因 突变分析: Synonyms: AIS; |
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=35359-9
LOINC Copyright
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