Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

Table 1 Characteristic and comparison of SMN1 single exon CNV detection via TGS and optimized MLPA

Parameters	TGS	Optimized-MLPA
Fundamental technology	Single-molecule real-time sequencing	Relative quantification and fragment analysis
Analysis procedure	LR-PCR + TGS	LR-PCR + MLPA
Duration	2 days	2 days
Cost	$450–$850 per test [33]	$29 per test
Data analysis	Complex	Routine Use

ISSN: 1471-2377