TF gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : TF gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : TF gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : TF gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : TF gene Full Mut Anl Bld/T Seq;

LOINC 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.;

Details

Origin ID

72487-2;

UMLS CUI

C3533612;

Has component
- Gene [LOINC component]
- TF gene [LOINC component]
- TF gene full mutation analysis [LOINC component]
Has method
- Sequencing [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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