Version 2.77

Term Description

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

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

Fully-Specified Name

Component
RRM2B gene full mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Sequencing

Additional Names

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

Example Answer List: LL5481-8

Source: Regenstrief LOINC
Answer Code Score Answer ID
c.979C >T LA30544-3
c.121C>T LA30545-0
c.329G>A LA30546-8

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen RRM2B Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completo del gen RRM2B:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-FR French (France) RRM2B gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-IT Italian (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-NL Dutch (Netherlands) RRM2B-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
zh-CN Chinese (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

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