21731-5
RB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19761-3 RB1 gene
The RB1 gene (retinoblastoma 1) [HGNC Gene ID:9884] is located on chromosome 13q14.2. The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5925]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- RB1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- RB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- RB1 gene Mut Anl Bld/T
- Display Name
- RB1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- RB1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.63
- 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.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen RB1 Analisis de mutaciones: |
es-AR | Spanish (Argentina) | análisis de la mutación del gen RB1: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen RB1: |
fr-FR | French (France) | RB1 gène mutation cible trouvée: |
it-IT | Italian (Italy) | RB1, gene analisi di mutazione mirata: Synonyms: Gene RB1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | RB1 유전자 돌연변이 분석: |
nl-NL | Dutch (Netherlands) | RB1-gen doelgerichte mutatie-analyse: Synonyms: molgen RB1 gen targeted |
pt-BR | Portuguese (Brazil) | RB1 análise de mutação genética: Synonyms: Retinoblastoma 1; |
ru-RU | Russian (Russian Federation) | RB1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | RB1 geni Mutasyon analizi: |
zh-CN | Chinese (China) | RB1 基因 突变分析: Synonyms: RB; |
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=21731-5
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