Version 2.78

Term Description

Deletions at 13q14 can be detected by FISH and used for the diagnosis of chronic lymphocytic leukemia (CLL), multiple myeloma, non-Hodgkin's lymphoma (NHL) as well as other forms of cancer. This code is based, but not limited to, Kreatech Diagnostic's DLEU (13q14) probe to detect copy numbers of the DLEU gene region at 13q14. Labs often report the X number of cells that have the probe deletion out of Y number of cells (e.g. 80 out of 100 cells, or 80%). Results are typically reported in ISCN (International System for Human Cytogenetic Nomenclature) format.
Source: Regenstrief LOINC

Part Descriptions

LP157582-0   Del(13)(q14)
FISH studies are commonly used to identify deletions of chromosome 13q14 and 17p13, which are known to cause chronic lymphocytic leukemia (CLL). Deletion of 13q14 is the most common chromosomal aberration in CLL and correlated with favorable prognosis. Deletion of 17p13 affects the p53 tumor suppressor gene (TP53) and has been associated with disease progression and reduced survival. Identification of these deletions is useful for choosing appropriate therapy for patients. For example, patients with deletions at 17p13 are resistant to standard therapies, such as fludarabine, but will likely benefit from more aggressive therapies, such as bone marrow transplantation.

Conventional cytogenetics (e.g. karyotyping) detects up to 50% of chromosomal aberrations whereas FISH methods detect up to 80% in patients with CLL. Urbankova, et al. (2012) showed that a subset of potentially significant genomic aberrations in CLL is being missed by cytogenetics and FISH. They demonstrated that arrayCGH analysis is robust, highly sensitive and specific and might be useful in routine screening of CLL. Urbankova, et al., suggested using a combination of conventional cytogentics, FISH and arrayCGH to determine the molecular karyotype of CLL since it is an important indicator of disease prognosis. Source: Regenstrief LOINC, PMID: 23073527

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
Del(13)(q14)
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
FISH

Additional Names

Short Name
Del(13)(q14) Bld/T FISH
Display Name
Del(13)(q14) FISH Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Del(13)(q14), Blood or tissue specimen

Example Answer List: LL2358-1

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
nuc ish(13q14)x2[100]

Normal

 LA19550-5
nuc ish(13q14x1)[60]/(13q14x2)[40]

Pathogenic

 LA19551-3

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
72727-1 Del(13)(q14) and del(17)(p13) in Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Del(13)(q14):Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Supr (13) (q14):Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Del(13)(q14):Identification:Ponctuel:Sang/Tissu:Résultat nominal:FISH
it-IT Italian (Italy) Del(13)(q14):Prid:Pt:Sangue/Tess:Nom:FISH
Synonyms: Delezione genetica Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) del(13)(q14):identificator:moment:bloed of weefsel:nominaal:FISH
pt-BR Portuguese (Brazil) Del(13)(q14):Ident:Pt:Sg/Tecido:Nom:FISH
tr-TR Turkish (Turkey) Del(13)(q14):MevcKimlik:Zmlı:Kan/Dk:Snf:FISH
zh-CN Chinese (China) Del(13)(q14):存在与否或特征标识:时间点:全血/组织:名义型:FISH
Synonyms: 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.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因缺失(13)(q14);基因删除(13)(q14);基因敲除(13)(q14) 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72728-9