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





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


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.