Mandibuloacral Dysplasia Type B
| TEST CODE | MG09530 |
| TEST NAME | Mandibuloacral Dysplasia Type B |
| RELATED GENE | ZMPSTE24 |
| SYNONYMOUS | ZMPSTE24 |
| OMIM | 608612 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Mandibuloacral Dysplasia Type B is an autosomal recessively inherited disease. Mutations in the ZMPSTE24 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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