Myopathy, Lactic Acidosis and Sideroblastic anemia 1
| TEST CODE | MG10670 |
| TEST NAME | Myopathy, Lactic Acidosis and Sideroblastic anemia 1 |
| RELATED GENE | PUS1 |
| SYNONYMOUS | PUS1 |
| OMIM | 600462 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Myopathy, Lactic Acidosis and Sideroblastic anemia 1 is an autosomal recessively inherited disease. Mutations in the PUS1 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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