LOINC
Version 2.71

58483-9BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

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. Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

Fully-Specified Name

Component
BRAF gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
BRAF gene Mut Anl Bld/T
Display Name
BRAF gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
BRAF gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.32
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

zh-CNChinese (China)
BRAF 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
BRAF-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
fr-FRFrench (France)
BRAF gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)
BRAF, gene , analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
pt-BRPortuguese (Brazil)
BRAF análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)
BRAF ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
es-ESSpanish (Spain)
Gen BRAF Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
tr-TRTurkish (Turkey)
BRAF geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=58483-9