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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

LOINC Names Get Info

Fully-Specified Name
PALB2 gene deletion+duplication:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
PALB2 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
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

Part Model Get Info

  • Component
    PALB2 gene deletion+duplication
    LP427335-7
    • Analyte
      PALB2 gene deletion+duplication
      LP427335-7
      • Component Numerator
        PALB2 gene deletion+duplication
        LP427335-7
        • Component Numerator Core
          PALB2 gene
          LP208439-2
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PALB2 delece+duplikace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PALB2 διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.DELDUP Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PALB2 διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen PALB2 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Deleción + duplicación del gen PALB2:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FRFrench (France)PALB2 gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)PALB2-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PALB2 gen
pl-PLPolish (Poland)PALB2 gen delecja+duplikacja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PALB2 wynik kategorialny
zh-CNChinese (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