At presentation
This newborn had been selected for genomic screening.
Broad, exome-based newborn screening allows the analysis of hundreds of genes early in life,
representing a significant step forward in the early detection of genetic conditions.
The panel had been performed with appropriate expertise and within a clinically relevant timeframe.
The result was reported as negative.
Beyond the initial result
Within months, the clinical picture changed.
The clinical presentation was clear and rapidly progressive.
The prior genomic result did not provide an explanation.
The case required a different level of analysis.
EXTENSION TO FULL EXOME
The analysis was escalated.
Rapid upgrade to full exome.
Data already available.
Touch to read
The clinical takeaway
When sequencing data is already available,
diagnosis can move at the speed the clinical situation requires.