SLC25A20 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : SLC25A20 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : SLC25A20 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : SLC25A20 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : SLC25A20 Full Mut Anl Bld/T Seq;

LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the SLC25A20 gene. Mutations in this gene are responsible for Carnitine-acylcarnitine translocase (CACT) deficiency, a rare autosomal recessive disorder of fatty acid oxidation.[GHR gene: SLC25A20];

Détails

Origin ID

94192-2;

UMLS CUI

C5381117;

Has component
- Gene [LOINC component]
- SLC25A20 gene [LOINC component]
- SLC25A20 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]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients