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SG EXOME - Exome analysis is based on the massive sequencing of the coding regions of the genome
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• A single study procedure with a high diagnostic rate.
• Diagnostic possibility by following a "phenotype to genotype" model or a "genotype to phenotype" model.
• Identification of pathogenic mutations through healthy parents with affected offspring not studied.
• Possibility of extending the study to genes previously not associated with disease (optional)