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Part Description

LP99728-5   RPS19 gene
The RPS19 gene (ribosomal protein S19) [HGNC Gene ID:10402] is located on chromosome 19q13.2. Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6223] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
RPS19 gene targeted mutation analysis:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
RPS19 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics method
Short Name
RPS19 gene Mut Anl Bld/T Ql
Display Name
RPS19 gene targeted mutation analysis Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
RPS19 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    RPS19 gene targeted mutation analysis
    LP229516-2
    • Analyte
      RPS19 gene targeted mutation analysis
      LP229516-2
      • Component Numerator
        RPS19 gene targeted mutation analysis
        LP229516-2
        • Component Numerator Core
          RPS19 gene
          LP99728-5
        • 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
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.32
Last Updated
Version 2.63 (MIN)
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen RPS19 cílená mutační analýza:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο RPS19 στοχευμένη ανάλυση μεταλλάξεων:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο RPS19 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen RPS19 Analisis de mutaciones:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen RPS19:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)RPS19 gène mutation cible trouvée:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)RPS19, gene analisi di mutazione mirata:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene RPS19 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)RPS19-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen RPS19 gen targeted
pl-PLPolish (Poland)RPS19 gen ukierunkowana analiza mutacji:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: Analiza mutacji genu RPS19 diagnostyka molekularna Gen RPS19
ru-RURussian (Russian Federation)RPS19 ген исследование на мутацию:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)RPS19 geni Mutasyon analizi:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)RPS19 基因 突变分析:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: DBA;40S ribosomal protein S19;ribosomal protein S19;40S 核糖体蛋白 S19;核糖体蛋白 S19 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 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=59068-7