The single-order assay provides 99% coverage of clinically relevant regions and aims to reduce the need for standalone chromosomal microarrays.
Helix has launched Whole Exome+ Sequencing (WES+), a diagnostic test that integrates exome sequencing, mitochondrial genome analysis, and digital karyotyping into a single order for patients with rare and unexplained genetic conditions.
According to Helix, the laboratory test provides sequence coverage across 99% of clinically relevant exome regions and includes integrated mitochondrial genome analysis when appropriate. The test’s digital karyotype feature utilizes next-generation sequencing data to perform high-resolution chromosomal copy number analysis, which the company reports may eliminate the need for standalone chromosomal microarray testing in many diagnostic workflows.
WES+ is available in proband-only, duo, and trio configurations. Ordering clinicians are not required to pre-select a targeted gene panel or establish a differential diagnosis prior to ordering; instead, Helix uses clinical notes submitted at the time of order entry to guide phenotype-driven variant prioritization and analysis.
Aligning with Clinical Guidelines
The introduction of the test aligns with diagnostic recommendations from medical professional organizations, according to Helix. The American College of Medical Genetics and Genomics, the American Academy of Pediatrics, and the National Society of Genetic Counselors recommend that clinicians consider exome or genome sequencing as a primary diagnostic evaluation for patients presenting with unexplained developmental delay, intellectual disability, autism spectrum disorder, congenital anomalies, and unexplained epilepsies.1,2,3
Helix states that the test is designed to streamline genetic evaluations and reduce diagnostic turnaround times for patients who have previously undergone inconclusive targeted gene panels.
“Too many patients spend years cycling through inconclusive tests while families wait for answers that should have come much sooner. 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,” says Cassie Hajek, MD, medical director at Helix, in a release.
Data Reanalysis and Laboratory Operations
The test utilizes Helix’s Sequence Once, Query Often operational model, which stores patient sequence data as a permanent clinical asset, according to the company. As clinical knowledge expands and novel gene-disease associations are identified, the existing genomic data can be queried again without collecting an additional patient sample. The company provides one complimentary data reanalysis per year for each WES+ order upon clinician request.
The assay is available nationwide and can be ordered through the Helix provider portal and integrated electronic health record systems, according to the release. Helix performs testing in its CLIA-certified and CAP-accredited laboratory and participates with regional and national health plans, Medicare, and Medicaid.
References
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.
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