| SMA | Spinal muscular atrophy |
| SMN1 | Survival Motor Neuron 1 gene |
| NAIP | NLR family apoptosis inhibitory protein/BIRC1 gene |
| NBS | Newborn screening program |
| DBS | Dried blood spots |
| IEM | Inborn errors of metabolism |
| PCR | Polymerase chain reaction |
| MLPA | Multiplex ligation probe amplification |
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