Version 2.80

Part Description

LP190763-5   TARDBP gene
The TARDBP gene [HGNC Gene ID: 483] is located on chromosome 1p36.22. It encodes the 43-kD TAR DNA-binding protein, which was originally identified as a transcriptional repressor that binds to TAR DNA of human immunodeficiency virus type 1. It is also involved in regulation of gene expression and splicing. Allelic variants of TARDBP are the cause of Amyotrophic lateral sclerosis 10 phenotype, with or without frontotemporal dementia.[OMIM: 605078] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: Online Mendelian Inheritance in Man®

Fully-Specified Name

Component
TARDBP gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
TARDBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
TARDBP gene Mut Anl Bld/T
Display Name
TARDBP gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
TARDBP gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL3610-4

Source: Online Mendelian Inheritance in Man®
Link to External List
http://www.omim.org/allelicVariant/605078
Answer Code Score Answer ID
p.Gln331Lys LA23967-5
p.Gly294Ala LA23968-3
p.Gly290Ala LA23969-1
p.Gly298Ser LA23970-9
p.Asp169Gly LA23971-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.63 (MIN)
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.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο TARDBP στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο TARDBP
es-ES Spanish (Spain) Gen TARDBP Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen TARDBP:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) TARDBP gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) TARDBP, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene TARDBP Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TARDBP-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen TARDBP gen targeted
tr-TR Turkish (Turkey) TARDBP geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) TARDBP 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: TAR DNA 结合蛋白;TAR DNA-结合蛋白 43;TAR DNA-结合蛋白-43;TAR DNA Binding Protein;TAR DNA-Binding Protein 43;TAR DNA-Binding Protein-43;TDP-43;ALS10;TDP43 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=77633-6