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Term Description

Detection of mutations in the TYMP gene for the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

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

LP412101-0   TYMP gene
The TYMP (thymidine phosphorylase) gene [HGNC Gene ID: 3148] is located on chromosome 22 at position q13.33. This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012][NCBI Gene ID: 1890] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    TYMP gene full mutation analysis
    LP416136-2
    • Analyte
      TYMP gene full mutation analysis
      LP416136-2
      • Component Numerator
        TYMP gene full mutation analysis
        LP416136-2
        • Component Numerator Core
          TYMP gene
          LP412101-0
        • 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
    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: LL5482-6

Source: Online Mendelian Inheritance in Man®
AnswerCodeScoreAnswer ID
p.Glu289AlaLA30547-6
p.Gly145ArgLA30548-4
p.Val208MetLA30549-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen TYMP kompletní mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Sekvenace
el-GRGreek (Greece)Γονίδιο TYMP πλήρης ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο TYMP Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen TYMP Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen TYMP:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-FRFrench (France)TYMP gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)TYMP, gene Analisi di mutazione completa:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Gene TYMP Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)TYMP-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
pl-PLPolish (Poland)TYMP gen pełna analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen TYMP wynik kategorialny
zh-CNChinese (China)TYMP 基因 全面突变分析:存在与否或特征标识:时间点:全血/组织:名义型:序列测定
Synonyms: 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 存在;存在与否;特征标识;身份;身份标识 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 胸苷磷酸化酶基因;Thymidine Phosphorylase gene 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=94079-1