Baraitser-Winter syndrome 1
| TEST CODE | MG10120 |
| TEST NAME | Baraitser-Winter syndrome 1 |
| RELATED GENE | ACTB |
| SYNONYMOUS | ACTB |
| OMIM | 243310 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Baraitser-Winter syndrome 1 is an Autosomal Dominant inherited disease. Mutations in the ACTB 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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