EGL has updated its multi-gene, evidence-based next generation sequencing panels and has launched several new panels to provide additional diagnostic options for dozens of common and rare genetic disorders. These updates are based on a thorough evidence-based review of peer-reviewed literature and consultation with clinicians.
Genetically heterogeneous disorders are challenging to diagnose due to overlapping, non-specific features that make targeting a specific gene difficult or impossible. Molecular confirmation of a clinical diagnosis may: identify the associated health conditions for which an individual should be monitored; guide proper therapeutic interventions; and reduce healthcare costs by preventing a lengthy diagnostic odyssey. In addition, identification of pathogenic variants allows for appropriate recurrence risk counseling of prenatal and/or pre-implantation diagnostic options.
EGL Gene Panels feature complete coverage of all coding exons and mutation spectrum (point mutation, small and large intragenic deletions/duplications) in clinically relevant genes for a particular phenotype. This reduces the incidence of variants of unknown clinical significance and incidental findings, and eases the delivery of results to patients, thereby shortening the time needed for counseling. The new and updated panels below represent a cost-effective option to provide a molecular diagnosis.