Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
| Test Information | |
|---|---|
| Test Name | Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Endocrinology |
| Subcategory | Congenital Adrenal Hyperplasia |
| Gene/Platform/Region List | CYP21A2 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, DNA (from Amniocyte / CVS) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, PCR (rearrangement sensitive), Sequencing |
| Methodology Notes | Long range PCR, MLPA, Sanger |
| Diseases/Conditions | Congenital Adrenal Hyperplasia (CAH) |
| Notes | Prenatal TAT= 14 |