Townes - Brocks Syndrome Type 1
TEST CODE | MG05000 |
TEST NAME | Townes – Brocks Syndrome Type 1 |
RELATED GENE | SALL1 |
SYNONYMOUS | SALL1 |
OMIM | 107480 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Townes – Brocks Syndrome Type 1 is an Autosomal Dominant inherited disease. Mutations in the SALL1 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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