34510-8
SDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP31885-4 SDHB gene
The SDHB gene (succinate dehydrogenase complex, subunit B, iron sulfur (Ip)) [HGNC Gene ID:10681] is located on chromosome 1p36.1-p35. Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6390]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SDHB gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- SDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- SDHB gene Mut Anl Bld/T
- Display Name
- SDHB gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SDHB gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- Last Updated
- Version 2.66 (MAJ)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο SDHB στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο SDHB Εύρεση |
| es-ES | Spanish (Spain) | Gen SDHB Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | análisis de mutación genética del gen SDHB: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen SDHB: |
| fr-FR | French (France) | SDHB gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SDHB, gene analisi di mutazione mirata: Synonyms: Gene SDHB Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SDHB 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SDHB-gen doelgerichte mutatie-analyse: Synonyms: molgen SDHB gen targeted |
| pt-BR | Portuguese (Brazil) | SDHB análise de mutação genética: Synonyms: Succinate dehydrogenase complex, subunit B, iron sulfur; |
| ru-RU | Russian (Russian Federation) | SDHB ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SDHB geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SDHB 基因 突变分析: Synonyms: IP; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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