Spinal Muscular Atrophy (SMA) SMN1 Point Mutation
| TEST CODE | MG02810 |
| TEST NAME | Spinal Muscular Atrophy (SMA) SMN1 Point Mutation |
| RELATED GENE | SMN1 |
| SYNONYMOUS | SMN1 |
| OMIM | 253300 253550 253400 271150 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | The SMA gene region on chromosome five contains the telomeric SMN1 and centromeric SMN2 genes. SMN1 gene deletion is seen in 95% of SMA cases. While the copy number of the SMN2 gene alone has no clinical significance, in cases with SMN1 deletion, the copy number of the SMN2 gene affects the phenotype. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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