94219-3
VWF gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis, such as by next-generation sequencing and/or Sanger sequencing, are performed to detect pathogenic variants within the VWF gene for the diagnosis of von Willebrand disease (VWD).[GHR gene: VWF]
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
LP35694-6 VWF gene
The VWF gene (von Willebrand factor) [HGNC Gene ID:12726] is located on chromosome 12p13.3. The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7450]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- VWF gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- VWF gene Full Mut Anl Bld/T Seq
- Display Name
- VWF gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- VWF 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 VWF Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis completo de la mutación del gen del FvW: |
| fr-FR | French (France) | VWF gène analyse complète des mutations: |
| it-IT | Italian (Italy) | VWF, gene Analisi di mutazione completa: Synonyms: Gene VWF Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | VWF-gen volledige mutatie-analyse: Synonyms: VWF gen |
| tr-TR | Turkish (Turkey) | VWF geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | VWF 基因 全面突变分析: Synonyms: F8VWF; |
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=94219-3
LOINC Copyright
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