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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

LP265689-2   CBL gene
The CBL (Cbl proto-oncogene) gene [HGNC Gene ID:1541] is located on chromosome 11 at 11q23.3 This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] [NCBI Gene ID: 867] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    CBL gene targeted mutation analysis
    LP445806-5
    • Analyte
      CBL gene targeted mutation analysis
      LP445806-5
      • Component Numerator
        CBL gene targeted mutation analysis
        LP445806-5
        • Component Numerator Core
          CBL gene
          LP265689-2
        • 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)CBL gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)Gene CBL 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)CBL gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen CBL wynik kategorialny
zh-CNChinese (China)CBL 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: Cbl Proto-Oncogene;Cbl 原癌基因 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=107253-7