Version 2.80

Part Description

LP35581-5   PARK2 gene
The PARK2 gene (parkin RBR E3 ubiquitin protein ligase) [HGNC Gene ID:8607] is located on chromosome 6q25.2-q27. The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5071] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PARK2 gene deletion+duplication
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
PARK2 gene deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
PARK2 gene Del+Dup Bld/T
Display Name
PARK2 gene del and dup mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PARK2 gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PARK2 διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο PARK2 Εύρεση
es-ES Spanish (Spain) Gen PARK2 Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Deleción + duplicación del gen PARK2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) PARK2 gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) PARK2, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene PARK2 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PARK2-gen deletie + duplicatie:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PARK2 gen
ru-RU Russian (Russian Federation) PARK2 ген делеция+дупликация:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) PARK2 geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) PARK2 基因 缺失+重复:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: AR-JP;PARKIN;PDJ;PRKN;巴金森氏症(常染色体隐性, 青少年型) 2 型;帕金森氏症(常染色体隐性, 青少年型) 2 型;常染色体隐性遗传性青少年型帕金森综合征;柏金逊症(常染色体隐性, 青少年型) 2 型;震颤性麻痹(常染色体隐性, 青少年型) 2 型;帕金森病;帕金森氏症;震颤性麻痹;震颤麻痹;巴金森症 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=95282-0