38408-1
PEO gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33181-6 PEO gene
The PEO gene (polymerase (DNA directed), gamma) gene is located on chromosome 15q25. Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5428]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PEO gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- PEO gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- PEO gene Mut Anl Bld/T
- Display Name
- PEO gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PEO gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.66
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen PEO: |
| es-ES | Spanish (Spain) | Gen PEO Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen PEO: |
| fr-FR | French (France) | PEO gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PEO, gene analisi di mutazione mirata: Synonyms: Gene PEO Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PEO 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PEO-gen doelgerichte mutatie-analyse: Synonyms: molgen PEO gen targeted |
| pt-BR | Portuguese (Brazil) | PEO análise de mutação genética: Synonyms: Progressive external ophthalmoplegia; |
| ru-RU | Russian (Russian Federation) | PEO ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | PEO geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PEO 基因 突变分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=38408-1
LOINC Copyright
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