Chondrodysplasia Punctata
| TEST CODE | MG08860 |
| TEST NAME | Chondrodysplasia Punctata |
| RELATED GENE | EBP |
| SYNONYMOUS | EBP |
| OMIM | 302960 |
| HEREDITY | X Linked Dominant |
| CLINICAL AREA | Chondrodysplasia Punctata is an X-linked dominantly inherited disease. Mutations in the EBP 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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