Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)_x000D_ MLPA

TEST CODE MG01610
TEST NAME Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)_x000D_ MLPA
RELATED GENE CYP21A2,CYP21A1P,TNXB,ATF6B
SYNONYMOUS CYP21A2,CYP21A1P,TNXB,ATF6B
OMIM
HEREDITY
CLINICAL AREA Congenital Adrenal Hyperplasia is an autosomal recessive disease. Mutations in the CFTR, ASZ1 and CTTNBP2 genes have been associated with the disease. This test screens deletion/duplication type mutations in disease-related genes with the MLPA method._x000D_
METHOD MLPA
SAMPLE TYPE Blood with EDTA
QUANTITY X
TAT 40 DAYS

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