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Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP184368-1   CDKN1B gene
The CDKN1B gene (cyclin-dependent kinase inhibitor 1B (p27, Kip1)) [HGNC Gene ID:1785] is located on chromosome 12p13.1-p12. This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014] [NCBI Gene ID:1027] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CDKN1B gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
CDKN1B gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
CDKN1B Full Mut Anl Bld/T Seq
Display Name
CDKN1B gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CDKN1B gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CDKN1B gene full mutation analysis
    LP227929-9
    • Analyte
      CDKN1B gene full mutation analysis
      LP227929-9
      • Component Numerator
        CDKN1B gene full mutation analysis
        LP227929-9
        • Component Numerator Core
          CDKN1B gene
          LP184368-1
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • 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
    Sequencing
    LP150045-5

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66 (MAJ)
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CDKN1B kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο CDKN1B πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο CDKN1B Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen CDKN1B Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen CDKN1B:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)CDKN1B gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)CDKN1B, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene CDKN1B Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CDKN1B-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: CDKN1B gen
pl-PLPolish (Poland)CDKN1B gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen CDKN1B
tr-TRTurkish (Turkey)CDKN1B geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CNChinese (China)CDKN1B 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: 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 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 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 细胞周期蛋白依赖性激酶抑制剂 1B (p27, Kip1);周期蛋白依赖激酶抑制剂 1B (p27, Kip1);细胞周期蛋白依赖性激酶抑制因子 1B (p27, Kip1);细胞周期蛋白依赖性激酶抑制剂 1B;周期蛋白依赖激酶抑制剂 1B;细胞周期蛋白依赖性激酶抑制因子 1B;Cyclin-dependent kinase inhibitor 1B (p27, Kip1);Cyclin-dependent kinase inhibitor 1B;CDKN1B;CDKN4;KIP1;MEN1B;MEN4 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=75389-7