Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children

Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children

Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.

Inclusion Criteria:

• Pediatric patients admitted to intensive care unit
• Infants with abnormal newborn screening result that is medical emergency

Exclusion Criteria:

• Participants or parents who cannot comply with study