Helix, the leading enterprise genomics platform, 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 per cent of clinically relevant regions, integrated mitochondrial genome analysis, and 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 the 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.
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 to reduce 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."
