Clinical Exome Sequencing
Indicated for patients with undiagnosed genetic disorders
- CES is a test that examines the portion of the genome that encodes for proteins (exons) and their flanking splice junctions.
- CES aims to identify disease-causing variants within the exons.
- CES interprets the identified variants within the context of the clinical presentation in order to reach a diagnosis for patients with challenging undiagnosed genetic disorders.
- The UAGC-CS sequences full trio or proband-only exomes encompassing over 50MB of around 21,000 human genes.
- Patients are sequenced to a depth greater than 50X coverage on a Illumina HiSeq 2500 and all data is aligned and mapped back to the human reference genome.
- The UAGC-CS clinical report includes all validated de novo variants as well as alternate alleles found in the patient sample prioritized by known or potential pathogenicity and relation to the clinical phenotype.
- Incidental findings are also reported if patient is consented to receive such findings.
- Genetic counseling before and after testing is required.