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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

LOINC Names Get Info

Fully-Specified Name
NOP56 gene.GGCCTG repeats:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method
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

Part Model Get Info

  • Component
    NOP56 gene.GGCCTG repeats
    LP412089-7
    • Analyte
      NOP56 gene.GGCCTG repeats
      LP412089-7
      • Component Numerator
        NOP56 gene.GGCCTG repeats
        LP412089-7
        • Component Numerator Core
          NOP56 gene.GGCCTG repeats
          LP412089-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL360-9

Source: Regenstrief Institute
AnswerCodeScoreAnswer 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 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen NOP56 repetitivní sekvence GGCCTG:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο NOP56.επαναλήψεις GGCCTG:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.NUCREPEAT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο NOP56.επαναλήψεις GGCCTG Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Repeticiones de GGCCTG del gen NOP56:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen NOP56.GGCCTG se repite:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)NOP56 gène répétitions GGCCTG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (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
pl-PLPolish (Poland)NOP56 gen.GGCCTG powtórzenia:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Powtórzenia GGCCTG w genie NOP56
zh-CNChinese (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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93795-3