78205-2

ALK 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 ALK Break Apart FISH Probe Kit, which is intended to detect rearrangements involving the ALK gene on chromosome region 2p23.

Part Descriptions

LP189759-6 ALK gene rearrangements
The ALK gene (anaplastic lymphoma receptor tyrosine kinase) [HGNC Gene ID: 427] is located on chromosome 2p23. This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] [NCBI Gene ID: 238] 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: ALK gene rearrangements:PrThr:Pt:Bld/Tiss:Ord:FISH
Long Common Name: ALK gene rearrangements [Presence] in Blood or Tissue by FISH
Short Name: ALK rearrange Bld/T Ql FISH
Display Name: ALK rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha Get Info: ALK rearrangements, Blood or tissue specimen

Part Model Get Info

Component
ALK gene rearrangements
LP189759-6
- Analyte
  ALK gene rearrangements
  LP189759-6
  - Component Numerator
    ALK gene rearrangements
    LP189759-6
    - Component Numerator Core
      ALK gene rearrangements
      LP189759-6
    - 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 ALK přestavba:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	Γονιδιακές αναδιατάξεις ALK:PrThr:Pt:Αίμα/Ιστός:Ord:Φθορίζουσα υβριδοποίηση in situ Synonyms: MOLPATH MOLPATH.REARRANGE Ord PrThr Pt Αίμα Αίμα/Ιστός Γονιδιακές αναδιατάξεις ALK Γονίδιο Γονίδιο ALK Ιστός Φθορίζουσα υβριδοποίηση in situ
es-ES	Spanish (Spain)	reordenamientos del gen ALK:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	Reordenamientos del gen ALK:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FR	French (France)	ALK gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-IT	Italian (Italy)	Riarrangiamenti del gene ALK:PrThr:Pt:Sangue/Tess:Ord:FISH Synonyms: Gene ALK 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)	ALK-genherschikking:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH Synonyms: ALK-gentranslocaties
pl-PL	Polish (Poland)	ALK gen rearanżacje:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:FISH Synonyms: fluorescencyjna hybrydyzacja in situ Gen ALK Rearanżacje genu ALK
tr-TR	Turkish (Turkey)	ALK geni yeniden düzenleme:MevcEşik:Zmlı:Kan/Dk:Srl:FISH Synonyms: Mevcut
zh-CN	Chinese (China)	ALK 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH Synonyms: ALK 基因重排（重组） Fluorescent in situ hybridization;荧光原位杂交依次型;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;生物基因间变型淋巴瘤激酶间变性淋巴瘤激酶（anaplastic lymphoma kinase，ALK）

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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.