LOINC
Version 2.72

34489-5TOR1A gene deletion [Presence] in Blood or Tissue by Molecular genetics methodActive

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] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

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
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

zh-CNChinese (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
nl-NLDutch (Netherlands)
TOR1A-gen deletie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
TOR1A gène délétion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
TOR1A, gene Delezione:Arb:Pt:Sangue/Tess:Ord:Molgen
ko-KRKorean (Korea, Republic of)
DYT1 유전자 결손:임의적분:검사시점:전혈/조직:순위척도:분자유전
pt-BRPortuguese (Brazil)
DYT1 deleção do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
ru-RURussian (Russian Federation)
TOR1A ген делеция:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
es-ARSpanish (Argentina)
deleción genética DYT1:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-MXSpanish (Mexico)
Deleción del gen TOR1A:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen DYT1 Deleción:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
tr-TRTurkish (Turkey)
TOR1A geni delesyon:Sç:Zmlı:Kan/Dk:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34489-5