93795-3
LaboratoryNOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method
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]
LOINC 6-Axis Classification
Component
NOP56 gene.GGCCTG repeats
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.NUCREPEAT
Order/Observation
Both
Short Name
NOP56 GGCCTG Rpt Bld/T Ql
Display Name
NOP56 gene GGCCTG repeats Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 93795-3?
LOINC code 93795-3 identifies "NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method". 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]
What does 93795-3 measure?
This code measures NOP56 gene.GGCCTG repeats in Bld/Tiss. It belongs to the MOLPATH.NUCREPEAT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.