基因檢測
SMA is diagnosed using genetic testing that detects homozygous deletion of the "SMN1" gene in over 95% of cases, and a compound "SMN1" mutation in the remaining patients. Genetic testing is usually carried out using a blood sample, and MLPA is one of more frequently used genetic testing techniques, as it also allows establishing the number of "SMN2" gene copies, which has is if clinical importance.