Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)
TEST CODE | MG01600 |
TEST NAME | Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) |
RELATED GENE | CYP21A2 |
SYNONYMOUS | CYP21A2 |
OMIM | 201910 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Congenital Adrenal Hyperplasia is an Autosomal Recessively inherited disease. Mutations in the CYP21A2 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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