55201-8
KIT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP94238-0 KIT gene
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
Fully-Specified Name
- Component
- KIT gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- KIT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- KIT gene Mut Anl Bld/T
- Display Name
- KIT gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- KIT gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.73 (MIN)
- 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 9326
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: KIT Gen Mutationsanalyse |
el-GR | Greek (Greece) | Γονίδιο KIT στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο KIT Εύρεση |
es-ES | Spanish (Spain) | Gen KIT Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen KIT: |
fr-FR | French (France) | KIT gène mutation cible trouvée: |
it-IT | Italian (Italy) | KIT, gene analisi di mutazione mirata: Synonyms: Gene KIT Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | KIT-gen doelgerichte mutatie-analyse: Synonyms: KIT gen molgen targeted |
pt-BR | Portuguese (Brazil) | KIT análise de mutação do gene: Synonyms: CD117; |
ru-RU | Russian (Russian Federation) | KIT ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | KIT geni Mutasyon analizi: |
zh-CN | Chinese (China) | KIT 基因 突变分析: Synonyms: C-Kit; |
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=55201-8
LOINC Copyright
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