78220-1

PDGFRB gene rearrangements [Presence] in Blood or Tissue by FISH

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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.

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

LOINC Names Get Info

Fully-Specified Name: PDGFRB gene rearrangements:PrThr:Pt:Bld/Tiss:Ord:FISH
Long Common Name: PDGFRB gene rearrangements [Presence] in Blood or Tissue by FISH
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

Part Model Get Info

Component
PDGFRB gene rearrangements
LP190355-0
- Analyte
  PDGFRB gene rearrangements
  LP190355-0
  - Component Numerator
    PDGFRB gene rearrangements
    LP190355-0
    - Component Numerator Core
      PDGFRB gene rearrangements
      LP190355-0
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
PrThr
LP217195-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Ord
LP7751-3
Method
FISH
LP62864-1

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 (MIN)
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
cs-CZ	Czech (Czechia)	Gen PDGFRB přestavba:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	Γονιδιακές αναδιατάξεις PDGFRB:PrThr:Pt:Αίμα/Ιστός:Ord:Φθορίζουσα υβριδοποίηση in situ Synonyms: MOLPATH MOLPATH.REARRANGE Ord PrThr Pt Αίμα Αίμα/Ιστός Γονιδιακές αναδιατάξεις PDGFRB Γονίδιο Ιστός Φθορίζουσα υβριδοποίηση in situ
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
pl-PL	Polish (Poland)	PDGFRB gen rearanżacje:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:FISH Synonyms: fluorescencyjna hybrydyzacja in situ Rearanżacje genu PDGFRB
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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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.