Congenital Adrenal Hyperplasia (17α - Hydroxylase Deficiency)

TEST CODE MG01590
TEST NAME Congenital Adrenal Hyperplasia (17α – Hydroxylase Deficiency)
RELATED GENE CYP17A1
SYNONYMOUS CYP17A1
OMIM 202110
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Adrenal Hyperplasia is an Autosomal Recessively inherited disease. Mutations in the CYP17A1 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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