When a diagnosis has been suggested, but not yet defined.
When the next step is unclear, but will shape everything that follows.
When timing matters as much as accuracy.
The exome contains most clinically relevant variants,
A single analysis can generate thousands of findings.
Only a few will matter.
The difference is deciding which ones.
Each case carries a personal and fragile dimension.
Exome analysis requires depth reasoning at every stage.
Actionable decisions depend on when results become available.
High-quality sequencing meets clinical responsibility.
Coverage depth
Supports reliable variant interpretation in a clinical context
Variant filtering
Distinguishes noise from clinical signal
Phenotype correlation
Grounds genomic findings in patient reality
Clinical curation
Translates data into actionable insights
Whole exome sequencing can be performed on a single individual or as a trio, including both biological parents.
In some cases, analyzing the patient alone is sufficient.
In others, especially when the clinical picture is complex or requires a more precise interpretation, a trio approach may increase the diagnostic yield.
The choice is clinical, and depends on the individual case.
In some clinical settings, Whole Genome Sequencing (WGS) is increasingly proposed in place of WES or WES trio, based on the idea that broader sequencing is inherently superior.
However, the most effective diagnostic strategy still depends heavily on the clinical context and interpretative structure surrounding the test.
→ WES trio or WGS solo?
From early-onset disorders to adult presentations
Neurodevelopmental
Epilepsies
Congenital Malformations
Metabolic disases
Neuromuscolar disorders
Adult onset diseases
Neurodevelopmental
Epilepsies
Congenital Malformations
Metabolic Disases
Neuromuscolar disorders
Adult onset diseases
Testing follows genetic consultation and can take place in different ways depending on the clinical context and timing:
→ Blood sampling at home with a dedicated nurse
→ In-clinic sampling during consultation (buccal swab)
→ Self-collection using a dedicated buccal swab kit
International patients can be fully managed remotely.
Sequencing generates data.
Interpretation generates diagnosis.