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).;
Has component