Opitz BBB Syndrome Type 2
| TEST CODE | MG04950 |
| TEST NAME | Opitz BBB Syndrome Type 2 |
| RELATED GENE | SPECC1L |
| SYNONYMOUS | SPECC1L |
| OMIM | 145410 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Opitz BBB Syndrome Type 2 is an Autosomal Dominant inherited disease. Mutations in the SPECC1L gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA / Mucosa / Amniotic Fluid |
| QUANTITY | 3 mL |
| TAT | 20 DAYS |
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