2.2.1 Research material for the single-tube monochromatic
fluorescence method
Samples from 218 members of 72 PKU families confirmed in the Pediatrics
and Medical Genetics Center of Northwest Women’s and Children’s
Hospital, Shaanxi, Xi’an from January 2010 to January 2015 were
collected. Samples with incomplete clinical information, unqualified
samples, and those in which the mutation site was not within the scope
of this test as determined by next-generation sequencing were excluded.
As a result, 180 members of 58 PKU families were finally collected for
the determination of the reaction conditions and performance
verification of the kit. All subjects signed an informed consent form.
Dried blood samples on filter paper were prepared and stored at −80°C.