93795-3

LOINC 2.82

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

NOP56 GGCCTG Rpt Bld/T Ql

Definition

  • 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]

Component

  • NOP56 gene.GGCCTG repeats

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.NUCREPEAT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; NOP56 GGCCTG Rpt; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.NUCREPEAT
  • NOP56 gene.GGCCTG repeats
  • NOP56 GGCCTG Rpt
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Repeat
  • Screen
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue