34511-6
SDHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP31865-6 SDHD gene
The SDHD gene (succinate dehydrogenase complex, subunit D, integral membrane protein) [HGNC Gene ID:10683] is located on chromosome 11q23. This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] [NCBI Gene ID:6392]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SDHD gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- SDHD gene Mut Anl Bld/T
- Display Name
- SDHD gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SDHD 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
- 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) | análisis de mutación genética del gen SDHD: |
| es-ES | Spanish (Spain) | Gen SDHD Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen SDHD: |
| fr-FR | French (France) | SDHD gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SDHD, gene analisi di mutazione mirata: Synonyms: Gene SDHD Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SDHD 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SDHD-gen doelgerichte mutatie-analyse: Synonyms: molgen SDHD gen targeted |
| pt-BR | Portuguese (Brazil) | SDHD análise de mutação genética: Synonyms: succinate dehydrogenase complex, subunit D, integral membrane protein; |
| ru-RU | Russian (Russian Federation) | SDHD ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SDHD geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SDHD 基因 突变分析: Synonyms: PGL; |
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=34511-6
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