Genetic Test Details

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Test Information

Title
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Lab
Newborn Screening Ontario
Category
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)

Last Updated: June 23, 2025

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