Congenital Adrenal Hyperplasia: Other

Test Information
Test Name Congenital Adrenal Hyperplasia: Other
Lab (Location) Newborn Screening Ontario
Category Endocrinology
Subcategory Congenital Adrenal Hyperplasia
Gene/Platform/Region List ARMC5, CYP11B1, CYP11B2, CYP17A1, HSD3B2, POR, PRKAR1A, STAR
Test type Gene Panel
Samples Accepted Blood, DNA, DNA (from Amniocyte / CVS), Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology Sequencing
Diseases/Conditions Congenital Adrenal Hyperplasia (CAH)
Notes