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
Indications
Diagnostics, Carrier Cascade Testing, Prenatal
Test Methodology
CNV, Sequencing
Methodology Notes
Long range PCR, MLPA, Sanger
Disease/Condition
Congenital Adrenal Hyperplasia (CAH)

Dernière Mise à Jour: 05 septembre 2025