Rare disease
Conditions
Interventions
Gold Standard:The use of various types of currently clinically accepted methods for the diagnosis of genetic diseases, including but not limited to tandem mass spectrometry, urinary organic acid analy
analysis 
of 
phenotypes 
in 
form 
based 
on 
clinical 
only, 
to 
make 
diagnostic 
Sponsors
The Children's Hospital, Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. From September 1, 2021 to September 1, 2022, hospital admissions to the Neonatology Department; 2. Genetic diagnosis is planned to be carried out based on the existing clinical diagnosis and treatment needs.
Exclusion criteria
Exclusion criteria: The child's family clearly indicates that the relevant clinical and genetic test data cannot be used for clinical research.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical Phenotype;SEN, SPE, ACC, AUC of ROC; | — |
Countries
China
Contacts
Public ContactLi Haomin
The Children's Hospital, Zhejiang University School of Medicine
Outcome results
None listed