Version 2.78

Fully-Specified Name

Component
MJD gene allele 1.CAG repeats
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MJD allele1 CAG Rpt Bld/T Ql
Display Name
MJD gene allele 1 CAG repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MJD gene Allele 1 CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.56
Change Reason
Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) alelo 1 del gen MJD .repeticiones CAG:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:
es-ES Spanish (Spain) Repeticiones CAG en el alelo 1 del gen MJD:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) El alelo 1 del gen MJD se repite CAG:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) MJD gène allèle 1 répétitions CAG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MJD, allele 1 gene.ripetizioni CAG:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG dell''allele 1 del gene MJD Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) MJD 유전자 대립유전자1.CAG 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MJD-allel 1.CAG repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) MJD gene alelo 1.CAG repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MJD allele1 CAG Rpt; Spinocerebellar ataxia; Ataxia-3; Machado-Joseph disease; Olivopontocerebellar ataxia 3; Ataxin 3; SCA3 gene; ATX3; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Repeat; I; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) MJD ген аллель 1.CAG повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MJD geni allel 1.CAG tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MJD 基因 等位基因 1.CAG 重复序列:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Ⅰ Ataxia-3 Ataxin 3 ATX3 I Machado-Joseph 病 MJD 等位基因 1.CAG 重复序列 SCA3 基因 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 共济失调 3 共济失调-3 共济失调因子-3 共济失调素-3 共济失调蛋白-3 共济蛋白-3 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 橄榄下核脑桥小脑共济失调 3 橄榄下核脑桥小脑共济失调 3（Olivopontocerebellar ataxia 3） 橄榄体桥脑小脑共济失调 橄榄-桥脑-小脑共济失调 橄榄脑桥小脑共济失调 脊髓小脑性共济失调 脑桥小脑共济失调 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

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