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Part Descriptions

LP89631-3   NPM1 gene
The NPM1 gene encodes for nucleophosmin (NPM), a ubiquitously expressed nucleolar phoshoprotein which shuttles continuously between the nucleus and cytoplasm. NMP1 is translocated or mutated in various lymphomas and leukemias, forming fusion proteins (e.g. NPM-ALK, NPM-RARalpha, NPM-MLF1) or NPM mutant products. NPM1 mutations (e.g. mutA, mutB, mutD) occur in about 30% of adult de novo AML and cause aberrant cytoplasmic expression of NPM. Various molecular techniques are used for the detection of NPM1 gene alterations. Findings contribute to diagnosis, prognosis, and monitoring of minimal residual disease of various lymphomas and leukemias. Source: Regenstrief LOINC, PMID: 17488663

LP89631-3   NPM1 gene
The NPM1 gene (nucleophosmin (nucleolar phosphoprotein B23, numatrin)) [HGNC Gene ID:7910] is located on chromosome 5q35.1. This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4869] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
NPM1 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
NPM1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
NPM1 gene Mut Bld/T Mut Anl
Display Name
NPM1 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
NPM1 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    NPM1 gene mutations
    LP452140-9
    • Analyte
      NPM1 gene mutations
      LP452140-9
      • Component Numerator
        NPM1 gene mutations
        LP452140-9
      • 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
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
4142

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen NPM1 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
de-ATGerman (Austria)Synonyms: NPM1 Mutationsanalyse
el-GRGreek (Greece)Γονίδιο NPM1 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο NPM1 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen NPM1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen NPM1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)NPM1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)NPM1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene NPM1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)NPM1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen NPM1 gen targeted
pl-PLPolish (Poland)NPM1 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu NPM1 diagnostyka molekularna Gen NPM1 wynik kategorialny
pt-BRPortuguese (Brazil)NPM1 análise de mutação do gene:#N/A:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; NPM; Nucleolar phosphoprotein b23; Numatrin; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)NPM1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)NPM1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)NPM1 基因 突变分析: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: B23;MGC104254;NPM;nucleolar phosphoprotein B23;nucleophosmin 1;nucleophosmin/nucleoplasmin family, member 1;numatrin;nucleophosmin (nucleolar phosphoprotein B23, numatrin);核仁磷蛋白 B23;核仁磷酸化蛋白 B23;核磷蛋白 1;核磷蛋白/核磷蛋白家族, 成员1;numatrin;核磷蛋白 (核仁磷蛋白 B23, numatrin, N NPM Numatrin 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 基因突变分析 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 核仁磷朊 b23 核仁磷蛋白 b23 核仁磷蛋白 b23（Nucleolar phosphoprotein b23，B23） 核仁磷蛋白 b23（Nucleophosmin，NPM，B23，Numatrin，NO38） 核仁磷酸化蛋白 核磷蛋白 核磷蛋白 1 核磷蛋白 1（Nucleophosmin，NPM，B23，N38，Numatrin） 核磷蛋白（Nuclear phosphoprotein，NPM） 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=54448-6