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
- DNA , Blood , DNA (from Amniocyte CVS)
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing , PCR (rearrangement sensitive) , CNV
- Methodology Notes
- Long range PCR, MLPA, Sanger
- Disease/Condition
- Congenital Adrenal Hyperplasia (CAH)
Dernière Mise à Jour: 18 juin 2025