Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy

release date:2022-02-28

This PDF file includes: 
Figure S-1 Test results of samples with different copy numbers of target genes diluted to a low concentration level. 
Figure S-2 RPP30 linear fitting results of four different samples with copy numbers of 0, 1, 2, and 3 target genes. 
Table S-1 Primer and probe sequences of dPCR-based assay for SMA detection. 
Table S-2 Cutoff values of different target genes. 
Table S-3 Test results of the samples with different copy numbers of exon 7 and exon 8. 
Table S-4 Results of copy number detection using the dPCR-based SMA Detection Kit in clinical samples. Table S-5 Comparison of MLPA and dPCR test results of dried blood spot samples. 
Table S-6 Comparison of test results between peripheral blood and buccal swab samples. 

Abbreviations: MLPA, Multiplex ligation-dependent probe amplification; dPCR, Digital PCR; TGR, Target gene ratio. 

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