Genetic disease
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1.All eligible newborn samples from participating units during the research period, including both healthy and sick newborns. 2.The guardian consents to undergo genetic testing and signs the informed consent form.
Exclusion criteria
Exclusion criteria: 1.Received blood transfusion treatment before blood sample collection. 2.Samples with disqualified dried blood filter paper. 3.The guardian does not agree to participate in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Next generation sequencing gene data;Neonatal tandem mass spectrometry screening;Newborn screening for four diseases (PKU.G6PD,CHCAH); | — |
Countries
China
Contacts
Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine