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

National Taiwan University

Status: Unknown

Conditions: Acute Disease; Congenital Metabolic Disorder

Treatments: Diagnostic Test: Whole Exome Sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT03175692

201703073RINB

Details and patient eligibility

About

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.

Enrollment: 150 estimated patients

Sex: All

Ages: 1+ day old

Volunteers: No Healthy Volunteers

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

Trial design

150 participants in 1 patient group

critical illness in infants and children

Description:

Those infants and children who has congenital metabolism disorder or acute disorder.

Treatment:

Diagnostic Test: Whole Exome Sequencing