Pseudohypoaldos Type 1
TEST CODE | MG04470 |
TEST NAME | Pseudohypoaldos Type 1 |
RELATED GENE | SCNN1A |
SYNONYMOUS | SCNN1A |
OMIM | 264350 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Pseudohypoaldos Type 1 is an Autosomal Recessively inherited disease. Mutations in the SCNN1A gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | EDTALI KAN |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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