Log In

Term Description

Detection of mutations in the RRM2B gene for the diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy.

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

LP412102-8   RRM2B gene
The RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B) gene [HGNC Gene ID: 17296] is located on chromosome 8 at position q22.3. This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010][NCBI Gene ID: 50484] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
RRM2B gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing
Long Common Name
RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name
RRM2B Full Mut Anl Bld/T Seq
Display Name
RRM2B gene full mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
RRM2B gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    RRM2B gene full mutation analysis
    LP416133-9
    • Analyte
      RRM2B gene full mutation analysis
      LP416133-9
      • Component Numerator
        RRM2B gene full mutation analysis
        LP416133-9
        • Component Numerator Core
          RRM2B gene
          LP412102-8
        • 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: LL5481-8

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
c.979C >TLA30544-3
c.121C>TLA30545-0
c.329G>ALA30546-8

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 RRM2B kompletní mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Sekvenace
el-GRGreek (Greece)Γονίδιο RRM2B πλήρης ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο RRM2B Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen RRM2B Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completo del gen RRM2B:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-FRFrench (France)RRM2B gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)RRM2B, gene Analisi di mutazione completa:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Gene RRM2B Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)RRM2B-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
pl-PLPolish (Poland)RRM2B gen pełna analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen RRM2B wynik kategorialny
zh-CNChinese (China)RRM2B 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: Ribonucleotide Reductase Regulatory TP53 诱导亚基 M2B 基因;TP53 Inducible Subunit M2B gene 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 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=94080-9