21676-2
FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19706-8 FGFR3 gene
The FGFR3 gene (fibroblast growth factor receptor 3) [HGNC Gene ID:3690] is located on chromosome 4p16.3. This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009] [NCBI Gene ID:2261]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FGFR3 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FGFR3 gene Mut Anl Bld/T
- Display Name
- FGFR3 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FGFR3 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 15132
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | FGFR3-Gen zielgerichtete Mutationsanalyse: |
| es-AR | Spanish (Argentina) | análisis de mutación del gen FGFR3: |
| es-ES | Spanish (Spain) | Gen FGFR3 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FGFR3: |
| fr-FR | French (France) | FGFR3 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FGFR3, gene analisi di mutazione mirata: Synonyms: Gene FGFR3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FGFR3 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | FGFR3-gen doelgerichte mutatie-analyse: Synonyms: FGFR3 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FGFR3 análise de mutação genética: Synonyms: Achondroplasia; |
| ru-RU | Russian (Russian Federation) | FGFR3 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | FGFR3 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | FGFR3 基因 突变分析: Synonyms: ACH; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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