Chanarin-Dorfman Syndrome
| TEST CODE | MG05260 |
| TEST NAME | Chanarin-Dorfman Syndrome |
| RELATED GENE | ABHD5 |
| SYNONYMOUS | ABHD5 |
| OMIM | 275630 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Chanarin-Dorfman Syndrome is an Autosomal Recessively inherited disease. Mutations in the ABHD5 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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