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Part Description

LP310274-8   CSF3R gene exons 14 & 17
The CSF3R (colony stimulating factor 3 receptor) gene [HGNC Gene ID:2439] is located on chromosome 1 at 1p34.3. The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] [NCBI Gene ID: 2439] Mutations in two functional domains of CSF3R, exon 14 (the membrane proximal region) and exon 17 (the cytoplasmic region), have been found to be associated with myeloid neoplasms, including atypical chronic myeloid leukemia and chronic neutrophilic leukemia PMID: 25858548. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
CSF3R gene exons 14 & 17 targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
CSF3R gene exons 14 and 17 targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
CSF3R gene exon 14+17 Mut Anl Bld/T
Display Name
CSF3R gene exons 14 and 17 targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CSF3R gene exons 14 and 17 targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CSF3R gene exons 14 & 17 targeted mutation analysis
    LP406711-4
    • Analyte
      CSF3R gene exons 14 & 17 targeted mutation analysis
      LP406711-4
      • Component Numerator
        CSF3R gene exons 14 & 17 targeted mutation analysis
        LP406711-4
        • Component Numerator Core
          CSF3R gene exons 14 & 17
          LP310274-8
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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.MUT
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CSF3R exony 14 a 17 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CSF3R εξώνια 14 & 17 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CSF3R εξώνια 14 & 17 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Exones 14 y 17 del gen CSF3R Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida a los exones 14 y 17 del gen CSF3R:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)CSF3R gène exons 14 et 17 mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)Esoni 14 & 17 del gene CSF3R analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Esoni 14 e 17 del gene CSF3R Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PLPolish (Poland)CSF3R gen eksony 14 & 17 ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Eksony 14 i 17 genu CSF3R Gen CSF3R
zh-CNChinese (China)CSF3R 基因外显子 14 与 17 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: Colony Stimulating Factor 3 Receptor gene;集落刺激因子 3 受体基因 CSF3R 基因外显子 14 & 17 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.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 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=92674-1