Glycogen Storage Disease Type 0A
| TEST CODE | MG09380 |
| TEST NAME | Glycogen Storage Disease Type 0A |
| RELATED GENE | GYS2 |
| SYNONYMOUS | GYS2 |
| OMIM | 138571 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Glycogen Storage Disease Type 0A is an Autosomal Recessively inherited disease. Mutations in the GYS2 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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