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. Author manuscript; available in PMC: 2015 Mar 2.
Published in final edited form as: Clin Chem. 2014 Dec 4;61(2):335–346. doi: 10.1373/clinchem.2014.225771

Table 1.

Reproducibility and nonaffected/affected ratio data for MS/MS and digital microfluidics fluorimetry assays of LSD enzymes.

% 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
a

Percent CV for DBS from nonaffected patients [100 × (SD/mean)].

b

The CVs are for multiple punches from the high and low QC sample from the CDC analyzed on the same MS/MS instrument (unpublished observations obtained in the authors’ laboratory).

c

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)].

d

Data from J. Orsini (Wadsworth Center, NY) for their MS/MS assays.