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.
Providers order without pre-selecting a gene panel
WES+ is available in proband-only, duo, and trio configurations. Clinical notes submitted at ordering guide Helix's phenotype-driven variant prioritization, removing the need for clinicians to specify a differential diagnosis upfront.
Clinical guidelines now prioritize exome and genome sequencing
The American College of Medical Genetics, the American Academy of Pediatrics, and the National Society of Genetic Counselors recommend exome or genome sequencing as a priority diagnostic approach for patients presenting with unexplained developmental delay, autism spectrum disorder, epilepsy, and congenital anomalies, according to published guidelines cited by Helix.
Sequence Once, Query Often model includes annual complimentary reanalysis
Helix's SOQO model treats a patient's genomic data as a permanent clinical asset that can be re-queried without a new sample as clinical evidence evolves or new gene-disease associations emerge. Every WES+ order includes one complimentary reanalysis per year upon provider request.
"Too many patients spend years cycling through inconclusive tests while families wait for answers that should have come much sooner," said Cassie Hajek, MD, Medical Director at Helix. "WES+ gives clinicians a comprehensive genomic picture at the very first visit."
Test is ordered through provider portal and expanding EHR integrations
WES+ is available now through the Helix provider portal and select electronic health record integrations, with additional EHR availability expanding as health system partners complete their builds. Helix works with national and regional health insurance plans as well as Medicare and Medicaid, and offers financial assistance programs for qualifying patients.