Version 2.77

Part Description

LP208439-2   PALB2 gene
The PALB2 gene (partner and localizer of BRCA2) [HGNC Gene ID:26144] is located on chromosome 16p12.2. This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79728] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PALB2 gene deletion+duplication
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
PALB2 Del+Dup Bld/T
Display Name
PALB2 gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PALB2 gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PALB2 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Deleción + duplicación del gen PALB2:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FR French (France) PALB2 gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) PALB2, gene Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene PALB2 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PALB2-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PALB2 gen
zh-CN Chinese (China) PALB2 基因 缺失+重复:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: BRCA2 伙伴与定位因子;互补群 N;范科尼贫血;Partner And Localizer Of BRCA2;Complementation Group N;Fanconi Anemia;FANCN;PNCA3 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 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 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 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=96974-1