Clinical Genomics
InsightDx™
Clinical Whole Exome Sequencing (WES)
A comprehensive genetic test that identifies changes in a patient’s DNA that are causative or related to their medical concerns.
Unlocking Genetic Insights
InsightDx™ uses Whole Exome Sequencing (WES) to analyze all protein-coding regions of your genes – the part most often linked to genetic disorders. By focusing on the 20,000+ genes that drive about 85% of known disease-causing variants, it helps doctors pinpoint the cause of unexplained symptoms faster and more accurately. Whether it’s diagnosing complex conditions, uncovering hidden mutations, or guiding treatment decisions, WES provides a powerful, efficient way to bring clarity to patients and families facing genetic uncertainty.
Faster, More Precise Diagnoses
With over 7,000 rare diseases—80% of which are genetic—diagnosis can be long and uncertain. InsightDx™ WES uncovers the root cause by examining the majority (~85%) of disease-causing variants, enabling quicker answers and reducing costs compared to traditional diagnostic pathways.
Actionable Clinical Reporting
Our advanced bioinformatics pipeline integrates both genotype and phenotype data to identify and prioritize disease-causing variants. Each report includes:
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Clear, clinically relevant findings
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Actionable recommendations
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Personalized follow-up options
This ensures physicians, patients, and partners receive the insights they need for confident, informed decision-making.
When is WES Recommended?
Whole exome sequencing (WES) analyzes over 20,000 genes, focusing on the protein-coding regions that contain most known disease-causing variants. By providing deeper sequencing coverage than whole genome sequencing, WES enables accurate molecular diagnosis, discovery of novel mutations, and insights into new disease mechanisms. For patients with complex or atypical genetic disorders, clinical WES offers a fast, one-step solution to identify potential variants and pinpoint the underlying cause.
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Preventive cares
Genetic risk assessment and screening for healthy individual in order to predict and potentially prevent the onset of diseases.
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Family planning & carrier screen
An accurate and safe DNA testing to check if you are a carrier for certain genetic conditions and understand if you have a higher chance to have a child with that condition.
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Complex medical problems and rare diseases
Patients with symptoms that are very broad, complex, or unspecific, not pointing towards specific disease or typical phenotype, or patients with a long list of inconclusive prior differential diagnoses, or who have exhausted other testing options.
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When a rapid diagnosis is a medical necessity
When there no time for serial testing strategies, a rapid diagnosis can be critical for timely clinical decision making in critically ill newborn infants and children in the Neonatal Intensive Care Units (NICU) or Paediatric Intensive Care Units (PICU).