Aldosterone Synthetase Deficiency

TEST CODE MG03600
TEST NAME Aldosterone Synthetase Deficiency
RELATED GENE CYP11B2
SYNONYMOUS CYP11B2
OMIM 203400 610600
HEREDITY Autosomal Recessive
CLINICAL AREA Aldosterone Synthetase Deficiency is an Autosomal Recessively inherited disease. Mutations in the CYP11B2 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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