Waardenburg Syndrome Type1/Type3
TEST CODE | MG02980 |
TEST NAME | Waardenburg Syndrome Type1/Type3 |
RELATED GENE | PAX3 |
SYNONYMOUS | PAX3 |
OMIM | 148820 |
HEREDITY | Autosomal Dominant / Autosomal Recessive |
CLINICAL AREA | Waardenburg Syndrome Type 1/Type 3 is an autosomal recessive or dominantly inherited disease. Mutations in the PAX3 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 30 DAYS |
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