93815-9
PROC gene full mutation analysis in Blood or Tissue by Sequencing
Active
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
LP411714-1 PROC gene
The PROC gene (protein C, inactivator of coagulation factors Va and VIIIa) [HGNC Gene ID:9451] is located on chromosome 2 at position q14.3. This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009] [NCBI Gene ID:5624]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PROC gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- PROC Full Mut Anl Bld/T Seq
- Display Name
- PROC gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PROC 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 PROC Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen PROC: |
fr-FR | French (France) | PROC gène analyse complète des mutations: |
it-IT | Italian (Italy) | PROC, gene Analisi di mutazione completa: Synonyms: Gene PROC Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PROC-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | PROC 基因 全面突变分析: Synonyms: 临床文档型; |
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=93815-9
LOINC Copyright
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