Version 2.78

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

Long Common Name
BRAF gene p.Val600Glu [Presence] in Bone marrow by Molecular genetics method
Short Name
BRAF p.V600E Mar Ql
Display Name
BRAF gene p.Val600Glu Molgen Ql (BM)
Consumer Name Alpha Get Info
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

Tag Language Translation
es-ES Spanish (Spain) Gen BRAF p.V600E:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
es-MX Spanish (Mexico) BRAF gene.p.Val600Glu:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
fr-FR French (France) BRAF gène p.Val600Glu:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) BRAF, gene.p.Val600Glu:PrThr:Pt:Mid oss:Ord:Molgen
Synonyms: Gene BRAF Gene BRAF p.Val600Glu Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) BRAF-gen.p.V600E:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek
Synonyms: BRAF gen BRAF gen.p.V600E molgen
ru-RU Russian (Russian Federation) BRAF ген.p.V600E:PrThr:ТчкВрм:Костный мозг:Пор:МолГен
Synonyms: Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) BRAF geni.p.V600E:MevcEşik:Zmlı:Kem il:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (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
Synonyms: B-Raf;原癌基因 B-Raf;proto-oncogene B-Raf;v-Raf murine sarcoma viral oncogene homolog B1;v-Raf 鼠科肉瘤病毒癌基因同源物 B1;v-Raf 小鼠肉瘤病毒癌基因同源物 B1;serine/threonine-protein kinase B-Raf;丝氨酸/苏氨酸蛋白激酶 B-Raf;丝氨酸-苏氨酸蛋白激酶 B-Raf;甲状腺癌;消化道肿瘤;皮肤黑色素瘤 BRAF基因V600E;BRAF p.V600E;BRAF1;B-RAF1;RAFB1;v-raf P 型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 遗传基因;遗传因子;吉恩;生物基因 骨骼;骨头 髓

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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