Treacher Collins Syndrome
| TEST CODE | MG04510 |
| TEST NAME | Treacher Collins Syndrome |
| RELATED GENE | POLR1C |
| SYNONYMOUS | POLR1C |
| OMIM | 248390 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Treacher Collins Syndrome Type 3 is an Autosomal Recessively inherited disease. Mutations in the POLR1C 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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