Table. Results From 4 Years of Full-Population Newborn Dried Blood Spot Screening in Missouri^a.

Lysosomal Storage Disease	Positive Screen Result	Confirmed Disorder	Genotypes of Unknown Significance or Onset	Pseudodeficiency	Carrier	False-Positive Findings (False-Positive Rate, %)b	Lost to Follow-up or Refused Further Testing	Incidence in Missouric	Positive Predictive Value,d %
Pompe	161	32e	9	31	39	48 (0.04)	2	1:9625	26
Gaucher	37	5	2	0	6	22 (0.01)	2	1:61 600	20
Fabry	179	94	6	1	0	66 (0.02)	12	1:3277	60
MPS I	133	2	2	71	8	45 (0.04)	5	1:154 000	3
All	510	133	19	103	53	181	21	1:2316	NA

Abbreviations: MPS I, mucopolysaccharidosis I; NA, not applicable.

^aIncludes approximately 308 000 newborns undergoing screening. Unless otherwise indicated, data are expressed as numbers of newborns.

^bCalculated as those with pseudodeficient, carrier, and false-positive findings divided by the total number screened.

^cIncludes only confirmed disorders.

^dCalculated as those with confirmed disorders and genotypes of unknown significance or onset divided by the number with positive screen results.

^eIncludes 8 infantile and 24 late onset.