Version 2.78

Part Description

LP31868-0   TOR1A gene
The TOR1A gene (torsin family 1, member A (torsin A)) [HGNC Gene ID:3098] is located on chromosome 9q34. The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1861] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
TOR1A gene deletion
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
TOR1A gene Del Bld/T Ql
Display Name
TOR1A gene del Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
TOR1A gene deletion analysis, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.70
Change Reason
Based on the official gene name provided by the HUGO Gene Nomenclature Committee (HGNC), DYT1 was changed to TOR1A.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) deleción genética DYT1:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen DYT1 Deleción:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Deleción del gen TOR1A:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) TOR1A gène délétion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) TOR1A, gene Delezione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Delezione genetica Gene TOR1A Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) DYT1 유전자 결손:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) TOR1A-gen deletie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen TOR1A gen
pt-BR Portuguese (Brazil) DYT1 deleção do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: dystonia 1, torsion; DYT2; TOR1A; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Deletions; MOLPATH.DELETIONS; MOLPATH.DELETIONS; Molecular pathology
ru-RU Russian (Russian Federation) TOR1A ген делеция:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) TOR1A geni delesyon:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) DYT1 基因 缺失:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: DYT2;TOR1A;肌张力异常 1, 扭转;肌张力障碍 1, 扭转;进行性脊柱前凸性步行困难 1, 扭转 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 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 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=34489-5