Acute Disease, Congenital Metabolic Disorder
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTWhole Exome Sequencing
Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.
Sponsors
Ministry of Science and Technology, Taiwan
National Taiwan University Hospital
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Days to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sensitivity of whole exome sequencing in detecting causative mutations | 10 weeks |
Secondary
| Measure | Time frame |
|---|---|
| Time frame of mutation identified after receipt of the sample | 10 weeks |
| Percentage of mutation identified within 7 days after receipt of the sample | 10 weeks |
| Changes in healthcare decision after disclosure of the result | 6 months |
| Parents/family's attitude about exome sequencing | 6 months |
Countries
Taiwan
Outcome results
None listed