95284-6
PINK1 gene deletion in Blood or Tissue by Molecular genetics method
Active
Part Description
LP61786-7 PINK1 gene
The PINK1 gene (PTEN induced putative kinase 1) [HGNC Gene ID:14581] is located on chromosome 1p36. This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:65018]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PINK1 gene deletion
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- PINK1 gene Del Bld/T
- Display Name
- PINK1 gene del Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PINK1 gene deletion analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen PINK1 Deleción: |
es-MX | Spanish (Mexico) | Deleción del gen PINK1: |
fr-FR | French (France) | PINK1 gène délétion: |
it-IT | Italian (Italy) | PINK1, gene Delezione: Synonyms: Delezione o duplicazione genica Gene PINK1 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PINK1-gen deletie: Synonyms: molgen PINK1 gen |
ru-RU | Russian (Russian Federation) | PINK1 ген делеция: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | PINK1 geni delesyon: |
zh-CN | Chinese (China) | PINK1 基因 缺失: Synonyms: BRPK; |
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=95284-6
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright