Spondylocostal dysostosis 5
| TEST CODE | MG09100 |
| TEST NAME | Spondylocostal dysostosis 5 |
| RELATED GENE | TBX6 |
| SYNONYMOUS | TBX6 |
| OMIM | 602427 |
| HEREDITY | Autosomal Dominant/Autosomal Recessive |
| CLINICAL AREA | Spondylocostal dysostosis 5 is an autosomal dominant or autosomal recessive disease. Mutations in the TBX6 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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