94079-1
TYMP gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Active
Term Description
Detection of mutations in the TYMP gene for the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
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
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
Fully-Specified Name
- Component
- TYMP gene full mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Sequencing
Additional Names
- 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
Example Answer List: LL5482-6
Source: Online Mendelian Inheritance in Man®Answer | Code | Score | Answer ID |
---|---|---|---|
p.Glu289Ala | LA30547-6 | ||
p.Gly145Arg | LA30548-4 | ||
p.Val208Met | LA30549-2 |
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 TYMP Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen TYMP: |
fr-FR | French (France) | TYMP gène analyse complète des mutations: |
it-IT | Italian (Italy) | TYMP, gene Analisi di mutazione completa: Synonyms: Gene TYMP Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | TYMP-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | TYMP 基因 全面突变分析: Synonyms: 全血或组织; |
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=94079-1
LOINC Copyright
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