Spinal Muscular Atrophy Distal Type
| TEST CODE | MG04970 |
| TEST NAME | Spinal Muscular Atrophy Distal Type |
| RELATED GENE | IGHMBP2 |
| SYNONYMOUS | IGHMBP2 |
| OMIM | 604320 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Spinal Muscular Atrophy Distal Type is an autosomal recessive inherited disease. Mutations in the IGHMBP2 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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