Congenital Adrenal Hyperplasia (11B - Hydroxylase deficiency)

TEST CODE MG01620
TEST NAME Congenital Adrenal Hyperplasia (11B – Hydroxylase deficiency)
RELATED GENE CYP11B1
SYNONYMOUS CYP11B1
OMIM 202010
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Adrenal Hyperplasia is an Autosomal Recessively inherited disease. Mutations in the CYP11B1 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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