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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis of the BTK gene to identify a pathogenic mutations and confirm a diagnosis of X-linked agammaglobulinemia (XLA) in male patients with a clinical history and laboratory findings (e.g. recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, and with or without abnormal Bruton tyrosine kinase (Btk) protein expression by flow cytometry). For female relatives of male XLA patients who do not demonstrate carrier phenotype by Btk flow cytometry, this test may also be performed.;

Details

Origin ID

94241-7;

UMLS CUI

C5381164;

Has component
- BTK gene [LOINC component]
- BTK gene full mutation analysis [LOINC component]
- Gene [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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