21739-8
TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19769-6 TP53 gene
The TP53 gene (tumor protein p53) [HGNC Gene ID:11998] is located on chromosome 17p13.1. This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013] [NCBI Gene ID:7157]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TP53 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- TP53 gene Mut Anl Bld/T
- Display Name
- TP53 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- TP53 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12615
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: TP53 Genmutation |
| es-ES | Spanish (Spain) | Gen TP53 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | análisis de la mutación del gen TP53: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen TP53: |
| fr-FR | French (France) | TP53 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | TP53, gene analisi di mutazione mirata: Synonyms: Gene Tp53 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | TP53 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | TP53-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted TP53 gen |
| pt-BR | Portuguese (Brazil) | TP53 análise de mutação genética: Synonyms: Li-Fraumeni syndrome; |
| ru-RU | Russian (Russian Federation) | TP53 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | TP53 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | TP53 基因 突变分析: Synonyms: Li-Fraumeni 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=21739-8
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright