34515-7
GLA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP31872-2 GLA gene
The GLA gene is located on chromosome Xq22.1 and encodes alpha-galactosidase A, a lysosomal enzyme involved in the metabolism of glycosphingolipids. GLA mutations cause Fabry disease, an X-linked disorder characterized by progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions. [OMIM: 301500]
Source: Regenstrief LOINC, OMIM: 301500
LP31872-2 GLA gene
The GLA gene (galactosidase, alpha) [HGNC Gene ID:4296] is located on chromosome Xq22. This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2717]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GLA gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GLA gene Mut Anl Bld/T
- Display Name
- GLA gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GLA gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 14487
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen GLA Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | análisis de mutación genética GLA: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GLA: |
| fr-FR | French (France) | GLA gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GLA, gene analisi di mutazione mirata: Synonyms: Gene GLA Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GLA 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GLA-gen doelgerichte mutatie-analyse: Synonyms: GLA gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GLA análise de mutação genética: Synonyms: galactosidase, alpha gene; |
| ru-RU | Russian (Russian Federation) | GLA ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | GLA geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GLA 基因 突变分析: Synonyms: AFD; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=34515-7
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright