99966-4
KIT gene exon 17 full mutation analysis in Blood or Tissue by Sequencing
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Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP263659-7 KIT gene exon 17
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 exon 17 full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Long Common Name
- KIT gene exon 17 full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- KIT Exon 17 Full Mut Anl Bld/T Seq
- Display Name
- KIT gene exon 17 full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- KIT gene Exon 17 variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.72
- Last Updated
- Version 2.72 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο KIT εξώνιο 17 πλήρης ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο KIT Γονίδιο KIT εξώνιο 17 Εύρεση |
| es-ES | Spanish (Spain) | Kit gen exon 17 Análisis de mutación completa: |
| fr-FR | French (France) | KIT gène exon 17 analyse complète des mutations: |
| it-IT | Italian (Italy) | KIT7 gene exon 13 Analisi di mutazione completa: Synonyms: Gene KIT Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | KIT-gen exon 17 volledige mutatie-analyse: Synonyms: KIT gen |
| zh-CN | Chinese (China) | KIT 基因外显子 17 全面突变分析: 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=99966-4
LOINC Copyright
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