Loeys-Dietz syndrome
| TEST CODE | MG01760 |
| TEST NAME | Loeys-Dietz syndrome |
| RELATED GENE | TGFBR1 |
| SYNONYMOUS | TGFBR1 |
| OMIM | 609192 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Loeys – Dietz syndrome (LDS1) is an Autosomal Dominant inherited disease. Mutations in the TGFBR1 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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