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Whole Exome Sequencing

Sheds light on your gene

• Sequencing of all exons for clinical diagnostics • NGS-based detection of CNVs • High quality bioinformatic analysis

Fully Undiagnosed Phenotypes

Heterogeneous Phenotypes

Autism, Epilepsy, Ataxia etc.

Yield of WES was 36% overall, 31% for isolated NDD and 53% for the NDD plus associated conditions

Diagnostic efficacy in epilepsy patients using the whole exome sequence was up to 70%