Table 1.
% CV CDC high/low QC samplesa |
Mean normal activity/ mean LSD-affected activity |
Mean normal activity/ mean activity of the no-blood control |
|||
---|---|---|---|---|---|
MS/MSb | Digital microfluidicsc |
MS/MSb | Digital microfluidicsc |
MS/MSb | |
Fabry | 6/16 | 9/12 | 28 | 6.1 | 109 |
Gaucher | 12/14 | 8/12 | 67 | 3.7 | 216 |
MPS-I | 9/11 | 9/17 | 168 | 7.4 | 230 |
MPS-II | 6/8 | 21/12 | 60 | 3.9 | 90 |
Pompe | 9/10 | 6.0/13.2 | 63 | 5.0 | 367 (240)d |
Krabbe | 7/12 | No data | 27 | No data | 85 (150)d |
Niemann-Pick-A/B | 11/11 | No data | 26 | No data | 104 |
Percent CV for DBS from nonaffected patients [100 × (SD/mean)].
The CVs are for multiple punches from the high and low QC sample from the CDC analyzed on the same MS/MS instrument (unpublished observations obtained in the authors’ laboratory).
The CVs are for multiple punches from the high and low QC sample from the CDC analyzed on different digital microfluidics instruments [Sista et al. (43)].
Data from J. Orsini (Wadsworth Center, NY) for their MS/MS assays.