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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the GSN (gelsolin) gene. Testing is used to confirm a diagnosis of lattice corneal dystrophy, gelsolin type (or lattice corneal dystrophy type II (LCD2)), a systemic amyloidosis with severe manifestations in the skin, cranial nerves and cornea.[GHR gene: GSN];

Details

Origin ID

94203-7;

UMLS CUI

C5381127;

Has component
- GSN gene [LOINC component]
- GSN 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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