An enhanced whole exome and mitochondrial genome sequencing test that uses next-generation sequencing (NGS) to identify the genetic causes behind rare and inherited disorders.
Expert clinical genomics laboratory.
Peripheral blood (EDTA sample).
Whole Exome & Mitochondrial Genome Sequencing.
Comprehensive genomic findings.
ExomePlus combines Whole Exome Sequencing (WES) and Complete Mitochondrial Genome Sequencing to provide comprehensive genomic insights for the diagnosis of rare and inherited disorders.
Focuses on the exome, where the majority of disease-causing genetic variants are found.
Complete sequencing of the mitochondrial genome for comprehensive detection of mitochondrial disease-associated variants.
From sample collection to clinical reporting, ExomePlus follows a streamlined genomic workflow to accurately identify genetic variants associated with rare and inherited disorders.
Peripheral blood (EDTA sample) is collected for comprehensive genomic testing.
High-quality genomic DNA is isolated from the collected blood sample.
Whole Exome and Complete Mitochondrial Genome Sequencing are performed using advanced NGS technology.
Clinical experts interpret sequencing data and identify clinically relevant genetic variants.
A comprehensive clinical report is generated and delivered within 25 working days.
Cover both the protein-coding regions of genes and the complete mitochondrial genome with just one test.