95784-5
FGFR2 gene rearrangements in Tissue by FISH
Active
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.
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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: |
es-MX | Spanish (Mexico) | Reordenamientos del gen FGFR2: |
fr-FR | French (France) | FGFR2 gène réarrangements: |
it-IT | Italian (Italy) | FGFR2, riorganizzazioni del gene: Synonyms: Gene FGFR2 Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Tessuto & |
nl-NL | Dutch (Netherlands) | FGFR2-genherschikking: Synonyms: FGFR2 gen FGFR2-gentranslocaties |
zh-CN | Chinese (China) | FGFR2 基因重排: Synonyms: BEK; |
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