Genetic Test Details

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Test Information

Titre
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Catégorie
Endocrinology
Sub Category
Congenital Adrenal Hyperplasia
Gene/Platform/Region List
CYP21A2
Test type
Single Gene
Samples Accepted
Blood, DNA, DNA (from Amniocyte CVS)
Indications
Diagnostics, Carrier Cascade Testing, Prenatal
Test Methodology
CNV, PCR (rearrangement sensitive), Sequencing
Methodology Notes
Long range PCR, MLPA, Sanger
Disease/Condition
Congenital Adrenal Hyperplasia (CAH)

Dernière Mise à Jour: 06 janvier 2026