Whole Exome Sequencing (WES) analyses approximately 20,000 protein-coding genes in a single test to identify genetic variants associated with inherited disorders. By focusing on the exome, where most disease-causing variants occur, WES provides comprehensive insights for diagnosing rare and hereditary conditions.
Peripheral blood sample collected for comprehensive genomic testing.
High-quality genomic DNA is isolated from the collected sample.
Approximately 20,000 protein-coding genes are analysed using advanced NGS technology.
Expert interpretation identifies clinically relevant genetic variants associated with inherited disorders.
Whole Exome Sequencing (WES) analyzes the protein-coding regions of genes to identify genetic variants associated with inherited disorders.
Comprehensive Genomic Test
across ~20,000 genes
relevant to disease
Hereditary Cancer Syndromes
Connective Tissue Disorders
Mitochondrial Disorders
Why Clinicians Choose Whole Exome Sequencing
Comprehensive analysis in a single test to evaluate nearly all protein-coding genes.
Supports accurate diagnosis of inherited and rare genetic disorders.
Enables clinicians to make informed treatment and management decisions.
Supports family planning, carrier screening and genetic counselling.
Our advanced sequencing workflow combines cutting-edge technology with clinically validated databases for accurate genomic insights.
High-quality sequencing across clinically relevant coding regions.
Deep sequencing ensures reliable detection of clinically relevant variants.
Variant interpretation using established clinical databases and evidence.
Analyse approximately 20,000 protein-coding genes in a single test to identify genetic variants associated with inherited disorders. Download the brochure or connect with our experts to learn more.