PRKAR1A gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : PRKAR1A gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : PRKAR1A gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : PRKAR1A gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : PRKAR1A 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 PRKAR1A gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH) or quantitative PCR (qPCR), is used to test for the presence of large deletions or duplications. This test is used to aid in the diagnosis of Carney complex (CNC) and suspected acrodysostosis-1 with hormone resistance.[GHR gene: PRKAR1A];

Détails

Origin ID

94214-4;

UMLS CUI

C5381138;

Has component
- Gene [LOINC component]
- PRKAR1A gene [LOINC component]
- PRKAR1A 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) :

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