93795-3

NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method

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Term Description

The detection of an intronic GGCCTG hexanucleotide repeat from 3-8 copies to 1500-2500 copies in the NOP56 gene that causes SCA36, a rare type of spinocerebellar ataxia that presents with motor neuron dysfunction. PMID: 21683323
Source: Regenstrief LOINC

Fully-Specified Name

Component: NOP56 gene.GGCCTG repeats
Property: PrThr
Time: Pt
System: Bld/Tiss
Scale: Ord
Method: Molgen

Additional Names

Short Name: NOP56 GGCCTG Rpt Bld/T Ql
Display Name: NOP56 gene GGCCTG repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info: NOP56 gene GGCCTG Repeats, Blood or tissue specimen

Example Answer List: LL360-9

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6

Basic Attributes

Class: MOLPATH.NUCREPEAT
Type: Laboratory
First Released: Version 2.67
Last Updated: Version 2.67
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Repeticiones de GGCCTG del gen NOP56:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX	Spanish (Mexico)	Gen NOP56.GGCCTG se repite:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR	French (France)	NOP56 gène répétitions GGCCTG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	NOP56, gene.ripetizioni GGCCTG:PrThr:Pt:Sangue/Tess:Ord:Molgen Synonyms: Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN	Chinese (China)	NOP56 基因.GGCCTG 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: 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;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 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因重复

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