Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

作者：Neto Eurico Camargo; Schulte Jaqueline; Pereira Jamile; Bravo Heydy; Sampaio Filho Claudio; Giugliani Roberto^*

来源：Genetics and Molecular Biology, 2018, 41(2): 414-416.

DOI：10.1590/1678-4685-GMB-2017-0227

• Lysossomal storage diseases
• neonatal screening
• digital microfluidics
• Brazil

We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.

• 出版日期2018-6