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

National Taiwan University Hospital150 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Congenital Metabolic Disorder Acute Disease

Interventions

Whole Exome SequencingDIAGNOSTIC_TEST

Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.

Eligibility

Sex: ALLMin age: 1 Day

Medical Language ↔ Plain English

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

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

Sensitivity of whole exome sequencing in detecting causative mutations

Time frame: 10 weeks

Secondary Outcomes

Time frame of mutation identified after receipt of the sample

Time frame: 10 weeks

Percentage of mutation identified within 7 days after receipt of the sample

Time frame: 10 weeks

Changes in healthcare decision after disclosure of the result

Time frame: 6 months

Parents/family's attitude about exome sequencing

Time frame: 6 months

Data from ClinicalTrials.gov

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