LDLR gene deletion duplication:Find:Pt:Bld/Tiss:Doc:MLPA

Preferred Label : LDLR gene deletion duplication:Find:Pt:Bld/Tiss:Doc:MLPA;

LOINC status : ACTIVE;

LOINC display name : LDLR gene del and dup mutation analysis MLPA Doc (Bld/Tiss);

LOINC long common name : LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA;

LOINC short name : LDLR gene Del Dup Bld/T MLPA;

LOINC description : This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).;

Détails

Origin ID

69486-9;

UMLS CUI

C3481723;

Has component
- Gene [LOINC component]
- LDLR gene [LOINC component]
- LDLR gene deletion+duplication [LOINC component]
Has method
- MLPA [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) :

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