Our panels include over 2600 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Our 200 panels cover all medical specialties. We offer Sequence Analysis, Targeted Del/Dup (CNV) Analysis, and Plus Analysis (a combination of Seq & Del/Dup) for all panels. Panels can be customized by adding genes from our single gene list or by removing genes from the selected panel. Our single gene list contains 2,526 genes with ≥99.5% of base pairs (bp) covered at ≥20x.
Our standard TAT for diagnostic panels is 3-4 weeks and for the Flex panels (customized) we currently reserve approximately 2 weeks longer for the analysis.