Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) MLPA
| TEST CODE | MG01610 |
| TEST NAME | Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) MLPA |
| RELATED GENE | CYP21A2,CYP21A1P,TNXB,ATF6B |
| SYNONYMOUS | CYP21A2,CYP21A1P,TNXB,ATF6B |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Congenital Adrenal Hyperplasia is an Autosomal Recessively inherited 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. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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