Version 2.78

Part Descriptions

LP190802-1   Cells.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
Cells.ALK gene rearrangements/Cells counted
Property
NFr
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
FISH

Additional Names

Short Name
Cells.ALK rear/Cells cnt NFr Bld/T FISH
Display Name
Cells.ALK rearrangements/Cells counted FISH (Bld/Tiss)
Consumer Name Alpha Get Info
Cells.ALK Rearrangements/Cells Counted, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamiento del gen ALK/Contaje celular:Fracción numérica:Punto temporal:Sangre o tejido:Qn:Hibridación in situ fluoresente (FISH)
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Células Reordenamientos del gen ALK / Células contadas:Fracción numérica:Punto temporal:Sangre o tejido:Cuantitativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) ALK gène réarrangements/cellules comptées:Fraction de nombres:Ponctuel:Sang/Tissu:Numérique:FISH
it-IT Italian (Italy) Cellule. Riarrangiamenti del gene ALK/Cellule contate:NFr:Pt:Sangue/Tess:Qn:FISH
Synonyms: Frazione numerica Gene ALK Ibridazione in situ fluorescente (FISH) Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) cellen.ALK-genherschikking/getelde cellen:getalsfractie:moment:bloed of weefsel:kwantitatief:FISH
Synonyms: ALK-gentranslocaties cellen.ALK gen translocaties
tr-TR Turkish (Turkey) Hücreler.ALK geni yeniden düzenleme/Hücreler sayılan:SayFr:Zmlı:Kan/Dk:Kant:FISH
zh-CN Chinese (China) 细胞.ALK 基因重排/已计数的细胞:计数型分数:时间点:全血/组织:定量型: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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 所计数的细胞;计数细胞;所计数细胞;已计数细胞 所计数细胞;已计数过细胞;已计数细胞;已计过数细胞 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 细胞.ALK 基因重排（重组） 细胞含量;细胞性;细胞性质;细胞构成;细胞类 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）

Example Units

Unit Source
% Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78233-4