Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy

The Illumina Clinical Services Laboratory is a Clinical Laboratory Improvement Amendments (CLIA)-certified, College of American Pathologists (CAP)-approved clinical laboratory offering genome sequencing (GS) for patients with a suspected rare and undiagnosed genetic disease. The GS test includes an assessment of single nucleotide variants, indels, copy number variants, mitochondrial single nucleotide variants, select repeat expansions disorders, and spinal muscular atrophy status in a single test.