Version 2.78

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 targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
PALB2 Mut Anl Bld/T
Display Name
PALB2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PALB2 gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL759-2

Source: Regenstrief Institute
Answer Code Score Answer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.73
Last Updated
Version 2.73
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PALB2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) PALB2 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) PALB2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene PALB2 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PALB2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PALB2 gen targeted
zh-CN Chinese (China) PALB2 基因 突变分析:发现:时间点:全血/组织:文档型: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 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;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 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 基因突变分析 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=100761-6