Table 2.

Summary of SMN1/SMN2 genotype in 520 individuals, as determined by capillary electrophoresis and MALDI-TOF MS.

SMN1/SMN2 genotypeInterpretationSMN1/SMN2 resultNo. of individualsPredicted status
Mean (SD)CV, %
1/20.50.49 (0.02)4.123SMA carrier
1/30.330.32 (0.03)9.010SMA carrier
2/122.00 (0.13)6.5144Normal
2/210.99 (0.06)6.1283Normal
3/133.19 (0.30)9.421Normal
SMN1 onlyNo SMN2 peak30Normal
SMN2 only0No SMN1 peak9SMA patient
Total520