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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

LP265693-4   CSF3R gene
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. Alternatively spliced transcript variants have been described. 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] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CSF3R gene targeted mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing
Long Common Name
CSF3R gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name
CSF3R gene Mut Anl Bld/T Seq
Display Name
CSF3R gene targeted mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CSF3R gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CSF3R gene targeted mutation analysis
    LP445807-3
    • Analyte
      CSF3R gene targeted mutation analysis
      LP445807-3
      • Component Numerator
        CSF3R gene targeted mutation analysis
        LP445807-3
        • Component Numerator Core
          CSF3R gene
          LP265693-4
        • 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
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Sequencing
    LP150045-5

Example Answer List: LL744-4

Source: Regenstrief Institute
AnswerCodeScoreAnswer ID
DetectedLA11882-0
Not detectedLA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.79
Last Updated
Version 2.79 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
fr-FRFrench (France)CSF3R gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)Gene CSF3R analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PLPolish (Poland)CSF3R gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen CSF3R wynik kategorialny
zh-CNChinese (China)CSF3R 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:序列测定
Synonyms: Colony Stimulating Factor 3 Receptor gene;集落刺激因子 3 受体基因 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=107252-9