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