Version 2.78

Part Descriptions

LP269797-9   RET gene rearrangements
The RET gene (ret proto-oncogene) [HGNC Gene ID:9967] is located on chromosome 10q11.2. This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5979] 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
RET gene rearrangements
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
RET gene rearrange Bld/T FISH
Display Name
RET rearrangements FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
RET rearrangements, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamiento del gen RET:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen RET:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) RET gène réarrangements:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) Riorganizzazioni del gene RET:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: Gene RET Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) RET-genherschikking:bevinding:moment:bloed of weefsel:document:FISH
Synonyms: RET gen RET-gentranslocatie
zh-CN Chinese (China) RET 基因重排:发现:时间点:全血/组织:文档型:FISH
Synonyms: CDHF12;C-RET;HSCR1;MEN2A;MEN2B;MTC1;PTC;RET 原癌基因;RET 原致癌基因;多发性内分泌肿瘤 2a 型;多发性内分泌肿瘤 2b 型;多发性内分泌肿瘤 IIa 型;多发性内分泌肿瘤 IIb 型 Fluorescent in situ hybridization;荧光原位杂交 RET 基因重排（重组）;RET 原癌基因;RET;Ret;PTC;RET51;RET9;c-Ret;CDHF12;CDHR16;HSCR1;MEN2A;MEN2B;MTC1;RET-ELE1;RET proto-oncogene 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=90927-5