Trichohepatoenteric Syndrome Type 2
| TEST CODE | MG09230 |
| TEST NAME | Trichohepatoenteric Syndrome Type 2 |
| RELATED GENE | SKIV2L |
| SYNONYMOUS | SKIV2L |
| OMIM | 600478 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Trichohepatoenteric Syndrome Type 2 is an autosomal recessive disease. Mutations in the SKIV2L 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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