Five years of newborn screening of inherited metabolic disorders in the Czech Republic

• Authors: BARTL Jiří; CHRASTINA Petr; FRIEDECKÝ David; HLÍDKOVÁ Eva; PINKASOVÁ Renata; VLÁŠKOVÁ Hana; PEŠKOVÁ Karolína; PAZDÍRKOVÁ Renata; PROCHÁZKOVÁ Dagmar; JEŠINA Pavel; HRUBÁ Zuzana; ADAM Tomáš; KOŽICH Viktor
• Year of publication: 2015
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine
• Description: 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.