SMA	Spinal muscular atrophy
DMT	Disease-modifying therapy
NBS	Newborn screening
STNPCR	Single-tube nested PCR
DBS	Dried blood spot
PCR-RFLP	PCR-restriction fragment-length polymorphism
qPCR	Quantitative PCR
ddPCR	Droplet digital PCR
MLPA	Multiplex ligation-dependent probe amplification
P/A	Presence and absence
mCOP	Modified competitive oligonucleotide priming