Helix Launches WES+ Test Combining Exome, Mitochondrial, Karyotype Analysis
San Mateo, Calif. – September 15, 2026 -- Helix has launched Whole Exome+ Sequencing (WES+), a diagnostic test that combines exome sequencing, mitochondrial genome analysis, and genome-wide digital karyotype into a single order for patients with unexplained developmental delay, neurological conditions, and rare genetic disease.
WES+ integrates four diagnostic capabilities in one order
The test covers 99% of clinically relevant exome regions, includes mitochondrial testing that other labs typically bill as a separate add-on, and performs high-resolution chromosomal copy number analysis via a digital karyotype. Helix says the digital karyotype feature may eliminate the need for a standalone chromosomal microarray (CMA) in many clinical scenarios, though the company notes CMA or additional cytogenetic testing may still be clinically indicated in some cases.