94230-0
GBA gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA]
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP33319-2 GBA gene
The GBA gene (glucosidase, beta, acid) [HGNC Gene ID:4177] is located on chromosome 1q21. This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] [NCBI Gene ID:2629]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GBA gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- GBA gene Full Mut Anl Bld/T Seq
- Display Name
- GBA gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GBA gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen GBA Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen GBA: |
| fr-FR | French (France) | GBA gène analyse complète des mutations: |
| it-IT | Italian (Italy) | GBA, gene Analisi di mutazione completa: Synonyms: Gene GBA Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | GBA-gen volledige mutatie-analyse: Synonyms: GBA gen |
| tr-TR | Turkish (Turkey) | GBA geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | GBA 基因 全面突变分析: Synonyms: Beta 葡糖苷酶基因; |
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LOINC Copyright
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