Bardet Biedl Syndrome Type 1
| TEST CODE | MG00640 |
| TEST NAME | Bardet Biedl Syndrome Type 1 |
| RELATED GENE | BBS1 |
| SYNONYMOUS | BBS1 |
| OMIM | 209900 |
| HEREDITY | Autosomal Recessive/ Recessive Digenic |
| CLINICAL AREA | Bardet Biedl Syndrome Type 1 (BBS1) is a disease inherited as an autosomal recessive or digenic recessive. Mutations in the BBS1 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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