Congenital Adrenal Hyperplasia: Other

Test Information

Titre
Congenital Adrenal Hyperplasia: Other
Catégorie
Endocrinology
Test Name (CMS Title)
Congenital Adrenal Hyperplasia
Gene/Platform/Region List
ARMC5, CYP11B1, CYP11B2, CYP17A1, HSD3B2, POR, PRKAR1A, STAR
Test type
Samples Accepted
Blood, DNA, DNA (from Amniocyte CVS), Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Congenital Adrenal Hyperplasia (CAH)

Dernière Mise à Jour: 09 décembre 2025