Combination of individual WES + CNV-seq, detect single-gene disorders and chromosomal diseases, comprehensive investigate the cause of children's intellectual disability, developmental delay, repeated miscarriage and infertility.
Pediatrics: patients with atypical disease characteristics, unexplained development and mental retardation, deformed proband and parents.
Obstetrics: couples with recurrent miscarriage (stillbirth), abnormal pregnancy.
For high-risk populations, the cause of genetic diseases in the family needs to be clarified.
Patients whose causes have not been identified by other medical tests.