Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.
A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.
Study Type
OBSERVATIONAL
Enrollment
70
The study targets critically ill children under 18 months of age, employing third-generation genome sequencing technology to complete long-read sequencing within 8-11 days, analyzing single nucleotide variants, small insertions/deletions, and structural variations. Through this research, we aim to enhance diagnostic accuracy, enabling ICUs to provide personalized and precision care and treatment based on genetic information, thereby ensuring a greater level of health security for these children. We only draw 3-5cc whole blood once for exam.
National Taiwan University Hospital
Taipei, Taiwan
RECRUITINGPositive yield rate
The percentage of individuals who test positive among the long-read sequencing exam
Time frame: 9 days after enrollment
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