17 Alpha Hydroxylase MLPA

TEST CODE MG03810
TEST NAME 17 Alpha Hydroxylase MLPA
RELATED GENE CYP17A1,HSD17B3,DMRT1,SRD5A2
SYNONYMOUS CYP17A1,HSD17B3,DMRT1,SRD5A2
OMIM 202110
HEREDITY Autosomal Recessive
CLINICAL AREA 17 Alpha Hydroxylase is an Autosomal Recessively inherited disease. Mutations in the CYP17A1 gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method.
METHOD MLPA
SAMPLE TYPE EDTALI KAN
QUANTITY 3 mL
TAT 40 DAYS

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