UBE3A gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : UBE3A gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : UBE3A gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : UBE3A gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : UBE3A gene Full Mut Anl Bld/T Seq;

LOINC description : Full gene sequence analysis of the UBE3A (ubiquitin protein ligase E3A) gene is performed for the confirmation of a diagnosis of Angelman syndrome in patients who have previously tested negative by methylation analysis. Bidirectional sequence analysis is performed to detect a mutation in all coding regions and intron/exon boundaries of the UBE3A gene.;

Details

Origin ID

94218-5;

UMLS CUI

C5381142;

Has component
- Gene [LOINC component]
- UBE3A gene [LOINC component]
- UBE3A 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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