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: 18 juin 2025