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Term Description

Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.

Part Description

LP62085-3   PKLR gene
The PKLR gene (pyruvate kinase, liver and RBC) [HGNC Gene ID:9020] is located on chromosome 1q21. The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5313] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PKLR gene deletion+duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
PKLR gene Del+Dup + Full Mut Anl Bld/T
Display Name
PKLR gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PKLR gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    PKLR gene deletion+duplication & full mutation analysis
    LP417495-1
    • Analyte
      PKLR gene deletion+duplication & full mutation analysis
      LP417495-1
      • Component Numerator
        PKLR gene deletion+duplication & full mutation analysis
        LP417495-1
        • Component Numerator Core
          PKLR gene
          LP62085-3
        • Component Numerator Core Suffix
          deletion+duplication & full mutation analysis
          LP200206-3
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PKLR delece+duplikace a kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PKLR ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης Γονίδιο Γονίδιο PKLR διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός Μοριακή γενετική πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen PKLR estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Eliminación del gen PKLR + duplicación y análisis de mutación completo:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)PKLR gène délétion+duplication et analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)PKLR, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione GenePKLR Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)PKLR-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PKLR gen
pl-PLPolish (Poland)PKLR gen delecja+duplikacja i pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PKLR
tr-TRTurkish (Turkey)PKLR geni delesyon+duplikasyon ve tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
Synonyms: çiftleme
zh-CNChinese (China)PKLR 基因 缺失+重复与全面的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: PK1;PKL;Pyruvate kinase 1 gene;Pyruvate kinase isozymes R/L gene;Pyruvate kinase, liver and RBC gene;RBC/肝丙酮酸激酶基因;RBC/肝脏丙酮酸激酶基因;Red cell/liver pyruvate kinase gene;RPK;R-type/L-type pyruvate kinase gene;R-型/L-型丙酮酸激酶基因;丙酮酸激酶 1 基因;丙酮酸激酶 同工酶 R/L 基因;丙酮酸激酶, 肝与 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 完整突变分析;综合突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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 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、重复基因、重复型基因、复制型基因）与全面的突变分析（突变全面分析、完整的突变分析、彻底的突变分析、全面型突变分析、全面式突变分析、突变全分析、突变彻底分析、全面突变分析） 血;血液 遗传基因;遗传因子;吉恩;生物基因

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