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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.

whole exome sequencing genetic test

Clinical Applications of WES+CNV-seq

  • 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.


Sample typesWhole blood / Tissue / Blood spot card
TAT20 working days

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Building C, Block 88 Kechuang 6th Street, Yizhuang Biomedical Park, Beijing