94199-7
FGA 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 coding regions and intron/exon boundaries of the fibrinogen alpha chain (FGA) gene. Mutations in the FGA gene are associated with congenital afibrinogenemia (also hypofibrinogenemia, dysfibrinogenemia, or hypodysfibrinogenemia) and familial renal amyloidosis.[GHR gene: FGA]
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
LP417392-0 FGA gene
The FGA gene (fibrinogen alpha chain) [HGNC Gene ID:3661] is located on chromosome 4q31.3. This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016] [NCBI Gene ID:2243]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FGA gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- FGA Full Mut Anl Bld/T Seq
- Display Name
- FGA gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- FGA 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 FGA Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen FGA: |
| fr-FR | French (France) | FGA gène analyse complète des mutations: |
| it-IT | Italian (Italy) | FGA, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | FGA-gen volledige mutatie-analyse: |
| zh-CN | Chinese (China) | FGA 基因 全面突变分析: Synonyms: 临床文档型; |
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- CodeSystem lookup
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LOINC Copyright
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