Glycogen Storage Disease Type 5
| TEST CODE | MG03990 |
| TEST NAME | Glycogen Storage Disease Type 5 |
| RELATED GENE | PYGM |
| SYNONYMOUS | PYGM |
| OMIM | 232600 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Glycogen Storage Disease Type 5 is an Autosomal Recessively inherited disease. Mutations in the PYGM 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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