2.2.2 Research material for the single tube two-color fluorescence method
The positive samples consisted of 126 peripheral blood samples from 42 PKU families that had mutations within the detection sites covered by the kit, which were diagnosed clinically and identified by next-generation sequencing (NGS) in the Genetics Center of Northwest Women’s
and Children’s Hospital from January 2010 to December 2018. The control samples were randomly selected from a healthy population in the same period, and a total of 50 samples were confirmed as wild-type by NGS. All subjects signed an informed consent form. Dried blood samples on filter paper were prepared and stored at −80°C.