94222-7
SERPINA1 gene full mutation analysis in Blood or Tissue by Sequencing
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Term Description
Full gene sequence analysis to identify a mutation within the coding regions and intron/exon boundaries of the SERPINA1 gene. Testing is performed for the diagnosis of Alpha-1-antitrypsin (A1A), particularly when a low or deficient alpha-1-antitrypsin serum levels is not explained by routine testing.
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
LP19753-0 SERPINA1 gene
The SERPINA1 gene (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1) [HGNC Gene ID:8941] is located on chromosome 14q32.1. The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5265]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SERPINA1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- SERPINA1 gene Full Mut Anl Bld/T Seq
- Display Name
- SERPINA1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SERPINA1 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 SERPINA1 Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen SERPINA1: |
| fr-FR | French (France) | SERPINA1 gène analyse complète des mutations: |
| it-IT | Italian (Italy) | SERPINA1, gene Analisi di mutazione completa: Synonyms: Gene SERPINA1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | SERPINA1-gen volledige mutatie-analyse: Synonyms: SERPINA1 gen |
| tr-TR | Turkish (Turkey) | SERPINA1 geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | SERPINA1 基因 全面突变分析: Synonyms: A1A; |
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- CodeSystem lookup
- https:
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LOINC Copyright
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