72487-2
TF gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Transferrin (TF) gene sequencing may be performed in conjunction with a Carbohydrate Deficient Transferrin (CDT) assay to rule out accusations of excessive alcohol consumption. CDT assays are used to identify and monitor individuals who have been charged with excessive alcohol consumption. However, some patients who have certain variants in the TF gene are unable to add the carbohydrate chain to the transferrin protein. This makes them carbohydrate deficient even if they are not consuming alcohol. Identification of specific variants in the TF gene support the lack of alcohol consumption.
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
LP157421-1 TF gene
The TF gene (coagulation factor III (thromboplastin, tissue factor)) [HGNC Gene ID:11740] is located on chromosome 1p22-p21. This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] [NCBI Gene ID:2152]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TF gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Long Common Name
- TF gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- TF gene Full Mut Anl Bld/T Seq
- Display Name
- TF gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- TF gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.42
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο TF πλήρης ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο TF Εύρεση |
| es-ES | Spanish (Spain) | Gen TF Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen TF: |
| fr-FR | French (France) | TF gène analyse complète des mutations: |
| it-IT | Italian (Italy) | TF, gene Analisi di mutazione completa: Synonyms: Gene TF Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | TF-gen volledige mutatie-analyse: |
| pt-BR | Portuguese (Brazil) | TG gene análise de mutação completa: |
| tr-TR | Turkish (Turkey) | TF geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | TF 基因 全面突变分析: Synonyms: Transferrin; |
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- CodeSystem lookup
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LOINC Copyright
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