35299-7
PSEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33148-5 PSEN1 gene
The PSEN1 gene (presenilin 1) [HGNC Gene ID:9508] is located on chromosome 14q24.3. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] [NCBI Gene ID:5663]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PSEN1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- PSEN1 gene Mut Anl Bld/T
- Display Name
- PSEN1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- PSEN1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.63
- 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.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen PSEN1 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen PSEN1: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen PSEN1: |
| fr-FR | French (France) | PSEN1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PSEN1, gene analisi di mutazione mirata: Synonyms: Gene PSEN1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PSEN1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PSEN1-gen doelgerichte mutatie-analyse: Synonyms: molgen PSEN1 gen targeted |
| pt-BR | Portuguese (Brazil) | PSEN1 análise de mutação genética: Synonyms: AD3; |
| ru-RU | Russian (Russian Federation) | PSEN1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | PSEN1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PSEN1 基因 突变分析: Synonyms: AD3; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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