LOINC
Version 2.72

35690-7GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics methodActive

Term Description

2 possible substitutions
Source: Regenstrief LOINC

Fully-Specified Name

Component
GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
GBA c.IVS2+1G>A/T Bld/T Ql
Display Name
GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha
GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.40
Change Reason
Updated Component part to describe mutations at coding level.
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
GBA 基因.c.IVS2(+1)G>A 与 IVS2(+1)G>T:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
GBA-gen.c.IVS2(+1)G>A & IVS2(+1)G>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
GBA gène mutations c.IVS2(+1)G>A et IVS2(+1)G>T:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
GBA, gene.c.IVS2(+1)G>A& IVS2(+1)G>T:Arb:Pt:Sangue/Tess:Ord:Molgen
ko-KRKorean (Korea, Republic of)
GBA유전자.g.GIVS2(+1)A+GBA 유전자.g.GIVS2(+1)T:임의적분:검사시점:전혈/조직:순위척도:분자유전
pt-BRPortuguese (Brazil)
GBA gene.g.GIVS2(+1)A+GBA gene.g.GIVS2(+1)T:Arb:Pt:Sg/Tecido:Ord:Genética molecular
ru-RURussian (Russian Federation)
GBA ген.c.IVS2(+1)G>A & IVS2(+1)G>T:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
es-ARSpanish (Argentina)
xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-MXSpanish (Mexico)
Gen GBA c. IVS2 (+1) G> A y IVS2 (+1) G> T:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen GBA c.IVS2(+1)G>A y IVS2(+1)G>T:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
tr-TRTurkish (Turkey)
GBA geni.c.IVS2(+1)G>A ve IVS2(+1)G>T:Sç:Zmlı:Kan/Dk:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35690-7