Table 1.

Summary of published results for Fabry disease, Pompe disease, Gaucher disease and Hurler syndrome (MPS I) from programs prospectively screening for multiple LSDs. Generally, DMF has lower false-positive rates and significantly higher PPVs compared with MS/MS. Confirmed positive cases include infantile onset, late onset and undetermined phenotypes (e.g. genotype of unknown significance, unknown onset). Positive predictive value (PPV) is calculated as: the number of confirmed positive/ number of (normal + carrier + pseudodeficient).