34502-5
VHL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP31890-4 VHL gene
The VHL gene (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase) [HGNC Gene ID:12687] is located on chromosome 3p25.3. Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7428]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- VHL gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- VHL gene Mut Anl Bld/T
- Display Name
- VHL gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- VHL gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- 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
- 12430
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen VHL: |
| es-ES | Spanish (Spain) | Gen VHL Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen VHL: |
| fr-FR | French (France) | VHL gène mutation cible trouvée: |
| it-IT | Italian (Italy) | VHL, gene analisi di mutazione mirata: Synonyms: Gene VHL Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | VHL 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | VHL-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted VHL gen |
| pt-BR | Portuguese (Brazil) | VHL análise de mutação genética: Synonyms: von Hippel-Lindau syndrome; |
| ru-RU | Russian (Russian Federation) | VHL ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | VHL geni Mutasyon analizi: |
| zh-CN | Chinese (China) | VHL 基因 突变分析: Synonyms: VHL 综合征; |
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=34502-5
LOINC Copyright
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