NPC1 gene NPC2 gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : NPC1 gene NPC2 gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : NPC1 gene NPC2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : NPC1 gene NPC2 gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : NPC1 NPC2 Del Dup Full Mut Anl Bld/T;

LOINC description : Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the NPC1 and NPC2 genes. In addition, deletion/duplication analysis, such as by multiplex ligation-dependent probe amplification (MLPA), detects presence of large deletions or duplications in these genes. Testing is performed to diagnosis Niemann-Pick type C (NPC), an inherited disorder of cholesterol transport that results in a build up accumulation of cholesterol and glycosphingolipids in the endosomal/lysosomal system.[GHR gene:NPC1][GHR gene:NPC2];

Détails

Origin ID

94211-0;

UMLS CUI

C5381135;

Has component
- Gene [LOINC component]
- NPC1 gene [LOINC component]
- NPC1 gene+NPC2 gene [LOINC component]
- NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis [LOINC component]
Has method
- Molecular genetics [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