Baraitser Winter Syndrome 2
| TEST CODE | MG08460 |
| TEST NAME | Baraitser Winter Syndrome 2 |
| RELATED GENE | ACTG1 |
| SYNONYMOUS | ACTG1 |
| OMIM | 614583 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Baraitser Winter Syndrome 2 is an autosomal dominantly inherited disease. Mutations in the ACTG1 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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