Helix Launches Whole Exome+® Sequencing for Patients with Rare and Unexplained Genetic Conditions

For patients with unexplained developmental delay, neurological conditions, and rare genetic disease, WES+ brings exome, mitochondrial, and chromosomal analysis together in a single order

SAN MATEO, Calif., Sept. 10, 2026 /PRNewswire/ -- Helix, the leading enterprise genomics platform, today announced the availability of Whole Exome+® Sequencing (WES+), a comprehensive diagnostic sequencing test now available to ordering providers nationwide.

WES+ integrates four capabilities in a single order: broad exome coverage across 99% of clinically relevant regions, integrated mitochondrial genome analysis, genome-wide digital karyotype. This digital karyotype leverages sequence data to perform high-resolution chromosomal copy number analysis, offering a comprehensive digital view of copy number  variations that may eliminate the need for a standalone chromosomal microarray in many clinical scenarios. Additionally, mitochondrial testing — typically a separate add-on or separate order with other labs — is included with WES+ orders, when appropriate. The digital karyotype feature may eliminate the need for a separate chromosomal microarray (CMA) in many clinical scenarios.

WES+ is available for proband-only, duo, and trio configurations. Providers do not need to specify a gene panel or pre-select a differential — clinical notes submitted at ordering guide Helix's phenotype-driven analysis and variant prioritization.

The launch reflects a broader shift in clinical guidelines, with American College of Medical Genetics, the American Academy of Pediatrics, and the National Society of Genetic Counselors now recommending consideration of exome or genome sequencing as a priority diagnostic approach for patients with unexplained developmental delay, autism spectrum disorder, epilepsy, congenital anomalies, and related conditions.^1,2,3 

For many patients with rare or undiagnosed conditions, the path to answers can span years of testing. WES+ is designed to support earlier, more comprehensive genetic evaluation, with the goal of reducing time to diagnosis for patients who have already undergone targeted panel testing.

"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, giving providers broad visibility into the genomic factors that may be driving a patient's presentation."

Central to Helix's WES+ offering is the Sequence Once, Query Often® (SOQO®) model. Rather than treating sequencing as a discrete event, SOQO establishes a patient's genomic data as a permanent clinical asset. As clinical evidence evolves, new gene-disease associations emerge, or a patient's presentation changes, existing sequence data can be re-queried without a new sample. One complimentary reanalysis per year is included with every WES+ order, upon provider request.

WES+ is ordered through the Helix provider portal and select electronic health record (EHR) integrations, with additional EHR availability expanding as health system partners complete their builds.

Helix works with a range of national and regional health insurance plans, as well as Medicare and Medicaid. Financial assistance programs are available for qualifying patients.

WES+ is available now. Providers can learn more and access ordering information at https://www.helix.com/providers/rare-disease/whole-exome-sequencing.

To learn more about Helix's diagnostic test catalog, which spans hereditary cancer panels, cardiovascular disease panels, pharmacogenomics (PGx), carrier screening, population screening, and general genetics, visit https://www.helix.com/patients/diagnostic-testing.

About Helix
Helix is the leading enterprise genomics platform. The company transforms health systems and enables life science organizations to leverage the power of genomics across their enterprise, creating strategic value and fueling future growth. The Helix Research Network® – the largest precision health network in the world – accelerates genomic discoveries and translates them into real-world clinical impact. Learn more at www.helix.com.

Helix is CAP-accredited and CLIA-certified (CLIA #05D2117342 | CAP #9382893).

Media Contact: [email protected]

WES+ is intended to support, not replace, clinical judgment. Results should be reviewed with a qualified genetics professional.  In some cases, chromosomal microarray or additional cytogenetic testing may still be clinically indicated. Ordering providers should use clinical judgment.

Helix is not endorsed, sponsored, nor affiliated with the respective owner(s) of the following trademark(s): ACMG, American Academy of Pediatrics, National Society of Genetic Counselors.

<sub>1. Manickam K, McClain MR, Demmer LA, et al; ACMG. ES/GS for pediatric patients with congenital anomalies or intellectual disability: evidence-based clinical guideline. Genet Med. 2021;23(11):2029-2037. PMID: 34211152. 
2. Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025 Jul 1;156(1):e2025072219. doi: 10.1542/peds.2025-072219. PMID: 40545261.
3. Smith L, Malinowski J, Ceulemans S, et al; NSGC. Genetic testing and counseling for unexplained epilepsies: evidence-based practice guideline. J Genet Couns. 2023;32(2):266-282. PMID: 36281494.</sub>

SOURCE Helix