Smith - Lemli - Opitz Syndrome
| TEST CODE | MG02730 |
| TEST NAME | Smith – Lemli – Opitz Syndrome |
| RELATED GENE | DHCR7 |
| SYNONYMOUS | DHCR7 |
| OMIM | 270400 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Smith – Lemli – Opitz Syndrome is an Autosomal Recessively inherited disease. Mutations in the DHCR7 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Serum |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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