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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene mutation analysis of all 8 exons in the ARSB gene is performed for the confirmation of a diagnosis of mucopolysaccharidosis type VI, an autosomal recessive condition characterized by reduced or absent activity of the arylsulfatase B enzyme due to mutations in the ARSB gene.[GHR gene: ARSB];

Details

Origin ID

94210-2;

UMLS CUI

C5381134;

Has component
- ARSB gene [LOINC component]
- ARSB 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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