94203-7
GSN 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 all coding regions and intron/exon boundaries of the GSN (gelsolin) gene. Testing is used to confirm a diagnosis of lattice corneal dystrophy, gelsolin type (or lattice corneal dystrophy type II (LCD2)), a systemic amyloidosis with severe manifestations in the skin, cranial nerves and cornea.[GHR gene: GSN]
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
LP417398-7 GSN gene
The GSN gene (gelsolin) [HGNC Gene ID:4620] is located on chromosome 9q33.2. The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2934]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GSN gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- GSN Full Mut Anl Bld/T Seq
- Display Name
- GSN gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GSN 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 GSN Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen GSN: |
fr-FR | French (France) | GSN gène analyse complète des mutations: |
it-IT | Italian (Italy) | GSN, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | GSN-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | GSN 基因 全面突变分析: Synonyms: 临床文档型; |
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LOINC Copyright
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