LOINC
Version 2.72

78205-2ALK gene rearrangements [Presence] in Blood or Tissue by FISHActive

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.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component
ALK gene rearrangements
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
ALK rearrange Bld/T Ql FISH
Display Name
ALK rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha
ALK 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

zh-CNChinese (China)
ALK 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
nl-NLDutch (Netherlands)
ALK-gentranslocaties:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
fr-FRFrench (France)
ALK gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-ITItalian (Italy)
Riarrangiamenti del gene ALK:PrThr:Pt:Sangue/Tess:Ord:FISH
es-MXSpanish (Mexico)
Reordenamientos del gen ALK:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
es-ESSpanish (Spain)
reordenamientos del gen ALK:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
tr-TRTurkish (Turkey)
ALK geni yeniden düzenleme:MevcEşik:Zmlı:Kan/Dk:Srl:FISH

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78205-2