CYP21A2 gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : CYP21A2 gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : CYP21A2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : CYP21A2 gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : CYP21A2 Del Dup Full Mut Anl Bld/T;

LOINC description : Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the CYP21A2 gene. Testing is performed for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).;

Détails

Origin ID

94197-1;

UMLS CUI

C5381806;

Has component
- CYP21A2 gene [LOINC component]
- CYP21A2 gene deletion+duplication and full mutation analysis [LOINC component]
- Gene [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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