94080-9
RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Active
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 LOINCAnswer | 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: |
es-MX | Spanish (Mexico) | Análisis de mutación completo del gen RRM2B: |
fr-FR | French (France) | RRM2B gène analyse complète des mutations: |
it-IT | Italian (Italy) | RRM2B, gene Analisi di mutazione completa: Synonyms: Gene RRM2B Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | RRM2B-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | RRM2B 基因 全面突变分析: Synonyms: Ribonucleotide Reductase Regulatory TP53 诱导亚基 M2B 基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=94080-9
LOINC Copyright
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