Cornelia de Lange Syndrome 1
| TEST CODE | MG03590 |
| TEST NAME | Cornelia de Lange Syndrome 1 |
| RELATED GENE | NIPBL |
| SYNONYMOUS | NIPBL |
| OMIM | 122470 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Cornelia de Lange Syndrome 1 is an autosomal dominantly inherited disease. Mutations in the NIPBL 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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