Bartter Syndrome Type 1
TEST CODE | MG00670 |
TEST NAME | Bartter Syndrome Type 1 |
RELATED GENE | SLC12A1 |
SYNONYMOUS | SLC12A1 |
OMIM | 601678 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Bartter Syndrome Type 1 (BARTS1) is an Autosomal Recessively inherited disease. Mutations in the SLC12A1 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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