LOINC
Version 2.72

78204-5CCND1 gene duplication [Presence] in Blood or Tissue by FISHActive

Term Description

This term was created for, but is not limited in use to, the Vysis LSI Cyclin D1 (11q13) SpectrumOrange/ CEP 11 SpectrumGreen Probe Kit, which is intended for identifying a gain in copy number (duplication) of the CCND1 gene.
Source: Regenstrief LOINC

Part Descriptions

LP36229-0   CCND1 gene
The CCND1 gene (cyclin D1) [HGNC Gene ID:1582] is located on chromosome 11q13. The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:595] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

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
CCND1 gene duplication
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
CCND1 gene Dp Bld/T Ql FISH
Display Name
CCND1 gene dup FISH Ql (Bld/Tiss)
Consumer Name Alpha
CCND1 gene duplication analysis, 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.DELDUP
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)
CCND1 基因 复制:存在情况或阈值:时间点:全血/组织:序数型:FISH
nl-NLDutch (Netherlands)
CCND1-gen duplicatie:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
et-EEEstonian (Estonia)
CCND1 geen duplikatsioon:PrThr:Pt:B/Tis:Ord:FISH
fr-FRFrench (France)
CCND1 gène duplication:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-ITItalian (Italy)
CCND1, gene , duplicazione:PrThr:Pt:Sangue/Tess:Ord:FISH
es-MXSpanish (Mexico)
Duplicación del gen CCND1:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
es-ESSpanish (Spain)
Gen CCND1 Duplicación:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
tr-TRTurkish (Turkey)
CCND1 geni dublikasyon: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=78204-5