34504-1
GJB6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP31866-4 GJB6 gene
The GJB6 gene (gap junction protein, beta 6, 30kDa) [HGNC Gene ID:4288] is located on chromosome 13q12. Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:10804]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GJB6 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GJB6 gene Mut Anl Bld/T
- Display Name
- GJB6 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GJB6 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- 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 |
|---|---|---|
| de-DE | German (Germany) | GJB6-Gen zielgerichtete Mutationsanalyse: |
| es-AR | Spanish (Argentina) | análisis de mutación genética GJB6: |
| es-ES | Spanish (Spain) | Gen GJB6 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GJB6: |
| fr-FR | French (France) | GJB6 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GJB6, gene analisi di mutazione mirata: Synonyms: Gene GJB6 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GJB6 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GJB6-gen doelgerichte mutatie-analyse: Synonyms: GJB6 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GJB6 análise de mutação genética: Synonyms: gap junction protein, beta 6; |
| ru-RU | Russian (Russian Federation) | GJB6 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | GJB6 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GJB6 基因 突变分析: Synonyms: Connexin 30; |
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=34504-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright