LOINC
Version 2.68

93795-3NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics methodActive

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)

Basic Attributes

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

Example Answer List LL360-9

Source: Regenstrief Institute

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

Language Variants Get Info

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
it-ITItalian (ITALY)
NOP56, gene.ripetizioni GGCCTG:PrThr:Pt:Sangue/Tess:Ord:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

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