Kaufman Oculocerebofacial Syndrome
| TEST CODE | MG04800 |
| TEST NAME | Kaufman Oculocerebofacial Syndrome |
| RELATED GENE | UBE3B |
| SYNONYMOUS | UBE3B |
| OMIM | 244450 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Kaufman Oculocerebofacial Syndrome is an Autosomal Recessively inherited disease. Mutations in the UBE3B 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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