Version 2.80

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
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
FGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Short Name
FGFR3 gene Mut Anl Amn/CVS
Display Name
FGFR3 gene targeted mutation analysis Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
FGFR3 gene targeted mutation analysis, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66 (MAJ)
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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο FGFR3 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο FGFR3 Εύρεση
es-ES Spanish (Spain) Gen FGFR3 Analisis de mutaciones:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen FGFR3:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Genética molecular
fr-FR French (France) FGFR3 gène mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Biologie moléculaire
it-IT Italian (Italy) FGFR3, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen
Synonyms: Campione di villi coriali Gene FGFR3 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
tr-TR Turkish (Turkey) FGFR3 geni Mutasyon analizi:Bulgu:Zmlı:Amnio sv/CVS:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) FGFR3 基因 突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:分子遗传学类实验室方法
Synonyms: ACH;CEK2;JTK4;先天性软骨发育不全;致死性侏儒;致死性侏儒症;致死性发育不良;致死性发育异常;软骨发育不全;软骨发育不全症;软骨生成不良症 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 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=75391-3