Version 2.79

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
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
FISH

Additional Names

Long Common Name
ALK gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
Short Name
ALK rearrange Bld/T FISH-Imp
Display Name
ALK rearrangements FISH Nar (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Interpretation of ALK rearrangements test result, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.65 (MIN)
Change Reason
Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονιδιακές αναδιατάξεις ALK:Imp:Pt:Αίμα/Ιστός:Nar:Φθορίζουσα υβριδοποίηση in situ
Synonyms: Imp Γονιδιακές αναδιατάξεις ALK Γονίδιο Γονίδιο ALK
es-ES Spanish (Spain) reordenamientos del gen ALK:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen ALK:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) ALK gène réarrangements:Interprétation:Ponctuel:Sang/Tissu:Résultat textuel:FISH
it-IT Italian (Italy) Riarrangiamenti del gene ALK:Imp:Pt:Sangue/Tess:Nar:FISH
Synonyms: Gene ALK Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) ALK-genherschikking:interpretatie:moment:bloed of weefsel:tekstueel:FISH
Synonyms: ALK-gentranslocaties
tr-TR Turkish (Turkey) ALK geni yeniden düzenleme:İzlnm:Zmlı:Kan/Dk:Öykü:FISH
zh-CN Chinese (China) ALK 基因重排:印象:时间点:全血/组织:叙述型:FISH
Synonyms: ALK 基因重排（重组） Fluorescent in situ hybridization;荧光原位杂交 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 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78210-2