Pompe Disease
| TEST CODE | MG02500 |
| TEST NAME | Pompe Disease |
| RELATED GENE | GAA |
| SYNONYMOUS | GAA |
| OMIM | 232300 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Pompe Disease is an autosomal recessively inherited disease. Mutations in the GAA 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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