34653-6
GJB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP32672-5 GJB1 gene
The GJB1 gene (gap junction protein, beta 1, 32kDa) [HGNC Gene ID:4283] is located on chromosome Xq13.1. This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2705]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GJB1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GJB1 gene Mut Anl Bld/T
- Display Name
- GJB1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GJB1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- 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) | GJB1-Gen zielgerichtete Mutationsanalyse: |
| es-AR | Spanish (Argentina) | gen GJB1: |
| es-ES | Spanish (Spain) | Gen GJB1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GJB1: |
| fr-FR | French (France) | GJB1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GJB1, gene analisi di mutazione mirata: Synonyms: Gene GJB1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GJB1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GJB1-gen doelgerichte mutatie-analyse: Synonyms: GJB1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GJB1 análise de mutação genética: Synonyms: CMTX; |
| ru-RU | Russian (Russian Federation) | GJB1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | GJB1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GJB1 基因 突变分析: Synonyms: Charcot-Marie-Tooth 神经病, X 染色体连锁; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=34653-6
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