Joubert Syndrome
| TEST CODE | MG01470 |
| TEST NAME | Joubert Syndrome |
| RELATED GENE | NPHP3 |
| SYNONYMOUS | NPHP3 |
| OMIM | 604387, 608002 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Joubert Syndrome is an Autosomal Recessively inherited disease. Mutations in the NPHP3 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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