LOINC
Version 2.72

85101-4BRAF gene p.Val600Glu [Presence] in Bone marrow by Molecular genetics methodActive

Term Description

This test is for detecting the BRAF V600E mutation in bone marrow specimens. For detecting this mutation in tumor specimens, use BRAF gene p.Val600Glu [Presence] in Tissue [LOINC:58415-1].
Source: Regenstrief LOINC

Part Description

LP99239-3   BRAF gene.p.Val600Glu
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] Val600Glu mutation is the most common BRAF mutation detected in human cancer and causes a conformational change in the BRAF protein's G-loop activation segment that makes it constitutively active and resistant to negative feedback signals. The identification of this mutation and its effects have led to the creation of targeted therapeutics that inhibit BRAF activity and have been associated with short-term improvement, but long-term remission usually does not occur due to acquired resistance to BRAF inhibitors. However, the combination of BRAF inhibitors with other medications, such as mitogen-activated protein kinase pathway inhibitors, may improve outcomes. BRAF mutations have been associated with a range of cancers, including malignant melanoma, colorectal cancer (CRC), non-small-cell lung cancer (NSCLC), thyroid cancer, hairy cell leukemia (HCL), and multiple myeloma. [PMID:24955706] Source: Regenstrief LOINC, PMID: 24955706

Fully-Specified Name

Component
BRAF gene.p.Val600Glu
Property
PrThr
Time
Pt
System
Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
BRAF p.V600E Mar Ql
Display Name
BRAF gene p.Val600Glu Molgen Ql (BM)
Consumer Name Alpha
BRAF gene p.Val600Glu, Bone marrow

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.61
Change Reason
Updated Property from 'Pr' to 'PrThr' based on the current LOINC model.
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
BRAF 基因 p.V600E:存在情况或阈值:时间点:骨髓:序数型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
BRAF-gen.p.V600E:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
BRAF gène p.Val600Glu:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
BRAF, gene.p.Val600Glu:PrThr:Pt:Mid oss:Ord:Molgen
ru-RURussian (Russian Federation)
BRAF ген.p.V600E:PrThr:ТчкВрм:Костный мозг:Пор:МолГен
es-MXSpanish (Mexico)
BRAF gene.p.Val600Glu:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen BRAF p.V600E:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
tr-TRTurkish (Turkey)
BRAF geni.p.V600E:MevcEşik:Zmlı:Kem il:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85101-4