Version 2.78

Term Description

Deletions at 13q14 and 17p13 can be detected by FISH and used for the diagnosis of chronic lymphocytic leukemia (CLL), multiple myeloma as well as other forms of cancer. This code is based, but not limited to, Kreatech Diagnostic's ON DLEU (13q14) and p53 (17p13) probes, which detect copy numbers of the DLEU gene region at 13q14 and the p53 gene region at 17p13.
Source: Regenstrief LOINC

Part Description

LP157581-2   Del(13)(q14) & del(17)(p13)
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

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
72727-1 Del(13)(q14) and del(17)(p13) in Blood or Tissue
Indent72728-9 Del(13)(q14) [Identifier] in Blood or Tissue by FISH Nominal
Indent72824-6 Del(17)(p13) [Identifier] in Blood or Tissue by FISH Nominal

Fully-Specified Name

Component
Del(13)(q14) & del(17)(p13)
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method

Additional Names

Short Name
Del(13)(q14)+del(17)(p13) Bld/T
Display Name
Del(13)(q14) and del(17)(p13) (Bld/Tiss)
Consumer Name Alpha Get Info
Del(13)(q14) and Del(17)(p13), Blood or tissue specimen

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.42
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Del(13)(q14) & del(17)(p13):Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:
es-MX Spanish (Mexico) Del (13) (q14) y del (17) (p13):-:Punto temporal:Sangre o tejido:-:
fr-FR French (France) Del(13)(q14) et del(17)(p13):-:Ponctuel:Sang/Tissu:-:
it-IT Italian (Italy) Del(13)(q14) & del(17)(p13):-:Pt:Sangue/Tess:-:
Synonyms: Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Set di prescrizione patologia molecolare Tessuto & Strisci
nl-NL Dutch (Netherlands) del(13)(q14) & del(17)(p13):-:moment:bloed of weefsel:-:
pt-BR Portuguese (Brazil) Del(13)(q14) & del(17)(p13)::Pt:Sg/Tecido:-:
ru-RU Russian (Russian Federation) Del(13)(q14) & del(17)(p13):-:ТчкВрм:Кр/Тк:-:
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) Del(13)(q14) 与 del(17)(p13):-:时间点:全血/组织:-:
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 基因缺失(13)(q14);基因删除(13)(q14);基因敲除(13)(q14) 基因缺失(17)(p13);基因删除(17)(p13);基因敲除(17)(p13) 基因缺失;基因删除;基因敲除 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 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=72727-1
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/72727-1