NCT03175692

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 150 (estimated)
• Sponsor: National Taiwan University Hospital · Academic / Other
• Sex: All
• Age: 1 Day
• Healthy volunteers: Not accepted

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.

Conditions

• Congenital Metabolic Disorder
• Acute Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Whole Exome Sequencing	Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.

Timeline

• Start date: 2017-06-14
• Primary completion: 2018-05-01
• Completion: 2020-05-01
• First posted: 2017-06-05
• Last updated: 2017-06-16

Locations

1 site across 1 country: Taiwan