Version 2.78

Term Description

This term was created for, but is not limited in use to, the Vysis PDGFRB Break Apart FISH Probe Kit, which is intended to detect chromosomal rearrangements involving the platelet derived growth factor receptor beta (PDGFRB) gene at chromosome region 5q32-q33.
Source: Regenstrief LOINC

Part Descriptions

LP190355-0   PDGFRB gene rearrangements
The PDGFRB gene (platelet-derived growth factor receptor, beta polypeptide) [HGNC Gene ID:8804] is located on chromosome 5q33.1. This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008] [NCBI Gene ID: 5159] 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
PDGFRB gene rearrangements
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
PDGFRB rearrange Bld/T Ql FISH
Display Name
PDGFRB rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PDGFRB rearrangements, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamientos del gen PDGFRB:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen PDGFRB:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) PDGFRB gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-IT Italian (Italy) Riarrangiamenti del gene PDGFRB:PrThr:Pt:Sangue/Tess:Ord:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PDGFRB-genherschikking:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
Synonyms: PDGFRB-gentranslocaties
tr-TR Turkish (Turkey) PDGFRB geni yeniden düzenleme:MevcEşik:Zmlı:Kan/Dk:Srl:FISH
Synonyms: Mevcut
zh-CN Chinese (China) PDGFRB 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
Synonyms: Beta 血小板源性生长因子受体前体 Beta 血小板源性生长因子受体前体（Beta platelet-derived growth factor receptor precursor，PDGFRB） CD140B 基因 Fluorescent in situ hybridization;荧光原位杂交 JTK12 PDGFbetaR PDGFR PDGFR1 PDGFRB 基因重排（重组） PDGF-R-BETA PDGF-R-β PDGFβR β血小板源性生长因子受体前体 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 分子病理学;分子病理学试验 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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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