58483-9
BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP71409-4 BRAF gene
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] is located on chromosome 7q34. This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:673] Loss of the BRAF gene can be determined by various techniques, and loss of the protein, which is an indicator of gene mutation or deletion, can be detected by immunohistochemistry techniques.
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- BRAF gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- BRAF gene Mut Anl Bld/T
- Display Name
- BRAF gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- BRAF gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.32
- 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
- 12540
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen BRAF Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen BRAF: |
| fr-FR | French (France) | BRAF gène mutation cible trouvée: |
| it-IT | Italian (Italy) | BRAF, gene analisi di mutazione mirata: Synonyms: Gene BRAF Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BRAF-gen doelgerichte mutatie-analyse: Synonyms: BRAF gen molgen targeted |
| pt-BR | Portuguese (Brazil) | BRAF análise de mutação do gene: |
| ru-RU | Russian (Russian Federation) | BRAF ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | BRAF geni Mutasyon analizi: |
| zh-CN | Chinese (China) | BRAF 基因 突变分析: Synonyms: B-Raf; |
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=58483-9
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