35300-3
GJB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33150-1 GJB2 gene
The GJB2 gene (gap junction protein, beta 2, 26kDa) [HGNC Gene ID:4284] is located on chromosome 13q11-q12. This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. 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 are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2706]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GJB2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GJB2 gene Mut Anl Bld/T
- Display Name
- GJB2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GJB2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 14050
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | GJB2-Gen zielgerichtete Mutationsanalyse: |
| es-ES | Spanish (Spain) | Gen GJB2 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen GJB2: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GJB2: |
| fr-FR | French (France) | GJB2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GJB2, gene analisi di mutazione mirata: Synonyms: Gene GJB2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GJB2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GJB2-gen doelgerichte mutatie-analyse: Synonyms: GJB2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GJB2 análise de mutação genética: Synonyms: DFNA3; |
| ru-RU | Russian (Russian Federation) | GJB2 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | GJB2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GJB2 基因 突变分析: Synonyms: Connexin 26; |
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=35300-3
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