Version 2.78

Part Descriptions

LP189732-3   KIT gene exon 9
The KIT gene (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) [HGNC Gene ID:6342] is located on chromosome 4q12. This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3815] Source: National Center for Biotechnology Information (NCBI) Gene

LP189732-3   KIT gene exon 9
The cause of most gastrointestinal stromal tumors (GISTs) results from activating mutations in the KIT gene (~85%), primarily those in exons 11 (~70%) and 9 (~10-15%). PMID: 14645423 Patients with exon 9 mutations have a longer progression free survival and overall survival compared to patients with KIT exon 11 mutations. PMID: 18955458 Patient responses to KIT inhibitors (e.g. imatinib) varies depending on the mutations found. Patients with exon 9 mutations are more likely to respond to second line sunitinib than those with other KIT mutations. PMID: 20124181 Source: Regenstrief LOINC

Fully-Specified Name

Component
KIT gene exon 9 targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
KIT Exon 9 Mut Anl Bld/T
Display Name
KIT gene exon 9 targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
KIT gene Exon 9 targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL3291-3

Source: Catalogue Of Somatic Mutations In Cancer
Code System
COSMIC
Code System OID
2.16.840.1.113883.3.912
Link to External List
http://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KIT
Answer Code Score Answer ID
p.A502_Y503dup LA22764-7
P.K499K LA22765-4
p.E490G LA22766-2
p.K499Q LA22767-0
p.F508_K509insFAF LA22768-8
Negative for the mutations and variants analyzed LA22756-3

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.52
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

Tag Language Translation
es-ES Spanish (Spain) Gen KIT, exon 9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al exón 9 del gen KIT:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) KIT gène exon 9 targeted mutation analysis:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) KIT, gene exon 9 analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene KIT Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) KIT-gen exon 9 doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: KIT gen KIT gen exon 9 molgen targeted
tr-TR Turkish (Turkey) KIT geni ekzon 9 Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) KIT 基因外显子 9 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
Synonyms: C-Kit;CD117;PBT;SCFR;mast/stem cell growth factor receptor;proto-oncogene tyrosine-protein kinase Kit;soluble KIT variant 1;v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog;肥大细胞/干细胞生长因子受体;干细胞/肥大细胞生长因子受体;原癌基因酪氨酸激酶 Kit;可溶性 KIT 变异体 1;可溶性 KIT 变体 全血或组织;血液/组织;血液或组织 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77172-5