Bartter Syndrome, Type 3
| TEST CODE | MG08450 |
| TEST NAME | Bartter Syndrome, Type 3 |
| RELATED GENE | CLCNKB,CLCNKA,CASP9,PRDM2 |
| SYNONYMOUS | CLCNKB,CLCNKA,CASP9,PRDM2 |
| OMIM | 602023 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Bartter Syndrome Type 3 is an Autosomal Recessively inherited disease. Mutations in the CLCNKB 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 | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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