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.