Panels

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. The great majority of tests are completed within 28 days. Ordering a single gene or panel for your patient allows you the option to Expand to Exome for up to two years after the initial test results were reported.

Tests

Last modified: 08.11.2018