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Term Description

The test includes full sequence analysis of exons and intron/exon boundaries of all 23 exons in the DPYD gene. Testing may be performed to identifying individuals at increased risk of toxicity when considering 5-fluorouracil (5-FU) and capecitabine chemotherapy treatment. Variations detected in the DPYD gene are also associated with dihydropyrimidine dehydrogenase (DPD) deficiency.

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

LP36885-9   DPYD gene
The DPYD gene (dihydropyrimidine dehydrogenase) [HGNC Gene ID:3012] is located on chromosome 1 at position p22. The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] [NCBI Gene ID:1806] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    DPYD gene full mutation analysis
    LP417499-3
    • Analyte
      DPYD gene full mutation analysis
      LP417499-3
      • Component Numerator
        DPYD gene full mutation analysis
        LP417499-3
        • Component Numerator Core
          DPYD gene
          LP36885-9
        • 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.PHARMG
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 DPYD kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο DPYD πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH MOLPATH.PHARMG Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο DPYD Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen DPYD Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen DPYD:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)DPYD gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)DPYD, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Farmacogenomica Gene DPYD Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)DPYD-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: DPYD gen
pl-PLPolish (Poland)DPYD gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen DPYD
tr-TRTurkish (Turkey)DPYD geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CNChinese (China)DPYD 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: DHP;DHPDHase;DPD;二氢嘧啶脱氢酶基因;二氢尿嘧啶脱氢酶基因;二氢胸腺嘧啶脱氢酶基因 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 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=94198-9