BTK gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : BTK gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : BTK gene familial mut analysis Molgen Doc (Bld/Tiss);

LOINC long common name : BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method;

LOINC short name : BTK gene Fam Mut Anl Bld/T;

LOINC description : This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.;

Details

Origin ID

69479-4;

UMLS CUI

C3481664;

Has component
- BTK gene [LOINC component]
- BTK gene mutation analysis limited to known familial mutations [LOINC component]
- Gene [LOINC component]
- Gene mutation analysis limited to known familial mutations [LOINC component]
- Mutations [LOINC component]
Has method
- Molecular genetics [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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