Version 2.77

Term Description

This tests detects FGFR2 (10q26.1) rearrangements by fluorescence in situ hybridization (FISH) in patients with cholangiocarcinomas and other tumor types, including bladder, thyroid, oral cavity, and brain.
Source: Regenstrief LOINC

Part Descriptions

LP420118-4   FGFR2 gene rearrangements
The FGFR2 gene (fibroblast growth factor receptor 2) [HGNC Gene ID:3689] is located on chromosome 10q26. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] [NCBI Gene ID:2263] Source: National Center for Biotechnology Information (NCBI) Gene

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
FGFR2 gene rearrangements
Property
Find
Time
Pt
System
Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
FGFR2 rearrange Tiss FISH
Display Name
FGFR2 gene rearrangements FISH Doc (Tiss)
Consumer Name Alpha Get Info
FGFR2 gene rearrangements, Tissue

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamientos del gen FGFR2:Hallazgo:Punto temporal:Tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen FGFR2:Hallazgo:Punto temporal:Tejido y frotis:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) FGFR2 gène réarrangements:Recherche:Ponctuel:Tissu:Document:FISH
it-IT Italian (Italy) FGFR2, riorganizzazioni del gene:Osservazione:Pt:Tessuto:Doc:FISH
Synonyms: Gene FGFR2 Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Tessuto & Strisci
nl-NL Dutch (Netherlands) FGFR2-genherschikking:bevinding:moment:weefsel en uitstrijkjes:document:FISH
Synonyms: FGFR2 gen FGFR2-gentranslocaties
zh-CN Chinese (China) FGFR2 基因重排:发现:时间点:组织与涂片:文档型:FISH
Synonyms: 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 基因重排（重组） Fluorescent in situ hybridization;荧光原位杂交 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;分子病理学试验 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=95784-5