In the Neonatal Intensive Care Unit (NICU), clinicians face highly challenging cases every day. These infants often develop severe symptoms shortly after birth, such as respiratory failure, metabolic disorders, neurological abnormalities, severe congenital malformations, or multi-system dysfunction. Traditional imaging, metabolic screening, or routine genetic tests (such as chromosomal karyotyping, CMA) can identify the etiology in some cases, but a considerable proportion of infants still cannot be clearly diagnosed, requiring comprehensive molecular diagnosis relying on whole exome sequencing technology.
Traditional whole exome sequencing technology typically takes 10-15 days from sample collection to the final sequencing results. For scenarios such as severe neonatal cases, metabolic crises, and sudden neurological symptoms that require Multidisciplinary Team (MDT) opinions to be formed in a short time, rapid whole exome sequencing (rWES) has become one of the most effective rapid molecular diagnostic methods.
Compared with traditional testing, rWES has the following prominent advantages:l
Comprehensiveness: It detects all exonic regions at one time, enabling the simultaneous identification of multiple gene mutations without being limited to a single disease.l
High diagnostic rate: The diagnostic rate in critically ill neonates is 40%–60%, which is significantly higher than that of single-gene testing or chip analysis.l
Rapid result delivery: Through parallel sequencing and real-time analysis, preliminary diagnostic results can be obtained within 1–3 days, suitable for clinical decision-making in critical cases.l
Precise guidance for treatment: After clarifying the molecular etiology, clinicians can administer targeted drugs or adopt treatments such as nutrition, hormone, and enzyme replacement therapies, thereby significantly improving the prognosis.
Leveraging years of experience in Panel and reagent development in the field of targeted capture sequencing, iGeneTech has launched an overall solution for rapid whole exome sequencing. Paired with the GeneMind Fastaseq S sequencer, it can complete ultra-rapid exome sequencing from sampling to data generation within 12 hours, assisting clinicians in making timely clinical decisions and striving for the "golden window of diagnosis" for critically ill neonates and patients in critical conditions.
Sampling: 0 h
Extraction: 30 min
Library preparation: 30 min
Capture: 2.5 h
Sequencing on machine*: 7.5 h
*Using GeneMind Fastaseq S sequencer, PE150 sequencing strategy, 12G database/lane.
Figure 1 Performance of iGeneTech rapid whole exome sequencing. 50ng NA12878 standard was used for rapid library preparation and hybrid capture, followed by sequencing on GeneMind Fastaseq S with PE150.
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