34647-8
PPT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP32668-3 PPT1 gene
The PPT1 gene (palmitoyl-protein thioesterase 1) [HGNC Gene ID:9325] is located on chromosome 1p32. The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008] [NCBI Gene ID:5538]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PPT1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- PPT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- PPT1 gene Mut Anl Bld/T
- Display Name
- PPT1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PPT1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 17204
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen PPT1 Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen PPT1: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen PPT1: |
| fr-FR | French (France) | PPT1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PPT1, gene analisi di mutazione mirata: Synonyms: Gene PPT1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PPT1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PPT1-gen doelgerichte mutatie-analyse: Synonyms: molgen PPT1 gen targeted |
| pt-BR | Portuguese (Brazil) | PPT1 análise de mutação genética: Synonyms: Palmitoyl-Protein Thioesterase gene; |
| ru-RU | Russian (Russian Federation) | PPT1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | PPT1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PPT1 基因 突变分析: Synonyms: CLN1; |
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=34647-8
LOINC Copyright
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