Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Test Information

Title
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Lab
Category
Endocrinology
Test Name (CMS Title)
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
Test Methodology
PCR (rearrangement sensitive), Sequencing
Methodology Notes
Long range PCR, MLPA, Sanger
Disease/Condition
Congenital Adrenal Hyperplasia (CAH)

Last Updated: November 14, 2025

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