93814-2
SERPINC1 gene full mutation analysis in Blood or Tissue by Sequencing
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Part Descriptions
LP145765-6 SERPINC1 gene
The SERPINC1 gene (serpin peptidase inhibitor, clade C (antithrombin), member 1) [HGNC Gene ID:775] is located on chromosome 1q25.1. The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009] [NCBI Gene ID:462]
Source: National Center for Biotechnology Information (NCBI) Gene
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
Fully-Specified Name
- Component
- SERPINC1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- SERPINC1 gene Full Mut Anl Bld/T Seq
- Display Name
- SERPINC1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SERPINC1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SERPINC1 Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen SERPINC1: |
| fr-FR | French (France) | SERPINC1 gène analyse complète des mutations: |
| it-IT | Italian (Italy) | SERPINC1, gene Analisi di mutazione completa: Synonyms: Gene SERPINC1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | SERPINC1-gen volledige mutatie-analyse: Synonyms: SERPINC1 gen |
| tr-TR | Turkish (Turkey) | SERPINC1 geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | SERPINC1 基因 全面突变分析: Synonyms: AT3; |
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=93814-2
LOINC Copyright
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