34516-5
SPAST gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP71376-5 SPAST gene
The SPAST gene (spastin) [HGNC Gene ID:11233] is located on chromosome 2p24-p21. This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6683]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SPAST gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- SPAST gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- SPAST gene Mut Anl Bld/T
- Display Name
- SPAST gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SPAST 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 SPAST στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο SPAST Εύρεση |
| es-AR | Spanish (Argentina) | análisis de mutación genética SPG4: |
| es-ES | Spanish (Spain) | Gen SPAST Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen SPAST: |
| fr-FR | French (France) | SPAST gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SPAST, gene analisi di mutazione mirata: Synonyms: Gene SPAST Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SPG4 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SPAST-gen doelgerichte mutatie-analyse: Synonyms: molgen SPAST gen targeted |
| pt-BR | Portuguese (Brazil) | SPAST análise de mutação genética: Synonyms: SPG4 gene; |
| ru-RU | Russian (Russian Federation) | SPAST ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SPAST geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SPAST 基因 突变分析: Synonyms: ADPSP; |
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=34516-5
LOINC Copyright
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