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Term Description

Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the CDKN1C gene to confirm a clinical diagnosis of Beckwith-Wiedemann syndrome or IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) syndrome.[GHR gene: CDKN1C]

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

LP417386-2   CDKN1C gene
The CDKN1C gene (cyclin dependent kinase inhibitor 1C) [HGNC Gene ID:1786] is located on chromosome 11p15.4. This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] [NCBI Gene ID:1028] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CDKN1C gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
CDKN1C gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
CDKN1C Full Mut Anl Bld/T Seq
Display Name
CDKN1C gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CDKN1C gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CDKN1C gene full mutation analysis
    LP417387-0
    • Analyte
      CDKN1C gene full mutation analysis
      LP417387-0
      • Component Numerator
        CDKN1C gene full mutation analysis
        LP417387-0
        • Component Numerator Core
          CDKN1C gene
          LP417386-2
        • 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
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 CDKN1C kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο CDKN1C πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο CDKN1C Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen CDKN1C Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completo del gen CDKN1C:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)CDKN1C gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)CDKN1C, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CDKN1C-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
pl-PLPolish (Poland)CDKN1C gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen CDKN1C
zh-CNChinese (China)CDKN1C 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;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 1C 基因;Cyclin Dependent Kinase Inhibitor 1C gene 血;血液 遗传基因;遗传因子;吉恩;生物基因

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94193-0