Version 2.79

Fully-Specified Name

Component
FGFR2 gene+FGFR3 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
FGFR2+FGFR3 gene Mut Anl Bld/T
Display Name
FGFR2 gene+FGFR3 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
FGFR2 gene+FGFR3 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.63 (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.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο FGFR2+γονίδιο FGFR3 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο FGFR2 Γονίδιο FGFR2+γονίδιο FGFR3 Γονίδιο FGFR3
es-ES Spanish (Spain) Gen FGFR2+ Gen FGFR3 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen FGFR2 + gen FGFR3:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) FGFR2+FGFR3 gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) FGFR2, gene+FGFR3, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene FGFR2 Gene FGFR2+gene FGFR3 Gene FGFR3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) FGFR2 gen + FGFR3-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: FGFR2 gen FGFR2 gen+FGFR3 gen FGFR3 gen molgen targeted
pt-BR Portuguese (Brazil) FGFR2 gene+FGFR3 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Achondroplasia; ACH; Thanatophoric dwarfism; Thanatophoric dysplasia; CEK2; JTK4; FGFR2+FGFR3 gene; Bacteria expressed kinase; Keratinocyte growth factor receptor; Craniofacial dysostosis 1; Crouzon syndrome; Pfeiffer syndrome; Jackson-Weiss syndrome; BEK; BFR-1; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; KSAM-1; TK14; TK25; Fibroblast growth factor receptor 2; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) FGFR2 ген+FGFR3 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FGFR2 geni+FGFR3 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) FGFR2 基因+FGFR3 基因 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: 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 BEK;BFR-1;CEK3;CFD1;Crouzon 综合征;ECT1;Jackson-Weiss 综合征;JWS;KGFR;K-SAM;KSAM-1;Pfeiffer 综合征;TK14;TK25;先天性颅面骨发育不全 1;克鲁宗氏病 1;克鲁松氏症候群;成纤维细胞生长因子受体 2;柯鲁松氏综合征;细菌表达性激酶;角化细胞生长因子受体;角质化细胞生长因子受体;颅缝早闭综合征;颅面骨发育不全 1;颅面骨发育不良症候群 1;颅骨提前愈合症;颅骨面骨发育不全 1 FGFR2+FGFR3 基因 全血或组织;血液/组织;血液或组织 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 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

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