Genetic Test Details
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Test Information
- Title
-
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
- Category
- Endocrinology
- Sub Category
-
Congenital Adrenal Hyperplasia
- Gene/Platform/Region List
-
CYP21A2
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, DNA (from Amniocyte CVS)
- Indications
- Diagnosis, Carrier Cascade Testing, Prenatal
- Test Methodology
- CNV, PCR (rearrangement sensitive), Sequencing
- Methodology Notes
-
Long range PCR, MLPA, Sanger
- Disease/Condition
-
Congenital Adrenal Hyperplasia (CAH)
Last Updated: April 22, 2026
