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.