94239-1
F11 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis of the F11 gene to identify a pathogenic mutation associated with factor XI deficiency (FXID, Hemophilia C).[GHR gene: F11]
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
LP208566-2 F11 gene
The F11 (coagulation factor XI) gene [HGNC Gene ID: 3529] is located on chromosome region 4q35. This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008][NCBI Gene ID: 2160]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F11 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Long Common Name
- F11 gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- F11 Full Mut Anl Bld/T Seq
- Display Name
- F11 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- F11 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο F11 πλήρης ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο F11 Εύρεση |
| es-ES | Spanish (Spain) | Gen F11 Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen F11: |
| fr-FR | French (France) | F11 gène analyse complète des mutations: |
| it-IT | Italian (Italy) | F11, gene Analisi di mutazione completa: Synonyms: Gene F11 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | F11-gen volledige mutatie-analyse: Synonyms: f11 gen |
| zh-CN | Chinese (China) | F11 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:
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LOINC Copyright
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