Coffin Lowry Syndrome
| TEST CODE | MG06250 |
| TEST NAME | Coffin Lowry Syndrome |
| RELATED GENE | RPS6KA3 |
| SYNONYMOUS | RPS6KA3 |
| OMIM | 303600 |
| HEREDITY | X-Linked Dominant |
| CLINICAL AREA | Coffin Lowry Syndrome is an X-linked dominantly inherited disease. Mutations in the RPS6KA3 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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