Spondyloepiphyseal Dysplasia
| TEST CODE | MG04770 |
| TEST NAME | Spondyloepiphyseal Dysplasia |
| RELATED GENE | TRAPPC2 |
| SYNONYMOUS | TRAPPC2 |
| OMIM | 313400 |
| HEREDITY | X-linked Recessive |
| CLINICAL AREA | Spondyloepiphyseal Dysplasia is an X-linked recessive disease. Mutations in the TRAPPC2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 30 DAYS |
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