Spinal Muscular Atrophy Carriage - MLPA
| TEST CODE | MG02800 |
| TEST NAME | Spinal Muscular Atrophy Carriage – MLPA |
| RELATED GENE | SMN1/SMN2 |
| SYNONYMOUS | SMN1/SMN2 |
| OMIM | 253300 253550 253400 271150 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | SMA is an Autosomal Recessively inherited disease. Mutations in the SMN1 and SMN2 genes have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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