Five years of newborn screening of inherited metabolicdisorders in the Czech Republic

The results are in agreement with Region4Screening target performance.Nevertheless, our laboratory algorithms are still being optimized in order to reduce number of false positive cases. Nowadays, we propose to extend the newborn screening panel from 10 to 15 IMDs, by adding citrullinemia type I, argininemia, CBS/methylenetetrahydrofolate reductase deficiency and biotinidase deficiency. Other 10 IMDs could be detected secondarily.