TNFRSF13B gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : TNFRSF13B gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : TNFRSF13B gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : TNFRSF13B gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : TNFRSF13B gene Full Mut Anl Bld/T Seq;

LOINC description : Sequencing of the entire coding region (full gene sequencing) within the TNFRSF13B gene (also known as TACI gene) is performed to identify mutations or variants in individuals with clinical features such as common variable immunodeficiency (CVID), selective IgA deficiency, lymphoproliferative disease associated with CVID, and autoimmune phenotypes with CVID. The TNFRSF13B gene, located on chromosome 17, consists of 5 exons spanning approximately 35 kb.;

Details

Origin ID

69487-7;

UMLS CUI

C3481725;

Has component
- Gene [LOINC component]
- TNFRSF13B gene [LOINC component]
- TNFRSF13B 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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