Our panels provide a comprehensive path to treating patients. Our panels include highly relevant 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 panels in numbers:

• Over 220 panels covering all medical specialties.
• Panels include over 2600 highly relevant genes
• Panels include a higher number of relevant genes and 1,479 known disease-causing deep intronic variants catalogued in the ClinVar and HGMD professional databases.
• All panels have 99.4% sensitivity with >20x sequencing depth and 174x mean sequencing depth at nucleotide level.

What we offer for our panels:

• 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 over 2,500 genes with ≥99.5% of base pairs (bp) covered at ≥20x.
• Our easy ordering and reporting platform Nucleus
• The great majority of tests are completed within 28 days. 
• For institutional panel orders we offer free testing for five family members. For more information see Familial Variant Testing.

High-quality analysis for clinical sensitivity and detecting indels & del/dups

All panels are based on the Illumina NovaSeq sequencing technology that enables high-quality analysis of single nucleotide variants (SNVs), insertions and deletions (indels) and copy number variations (CNVs). The updated custom assay enables more confident variant calling even in complex genomic regions with high sequence homology.

Our technology also enables coverage in clinically relevant and challenging genes & areas.

Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases. We have and improved coverage and sensitivity in variant calling in clinically relevant and challenging genes such as PKD1 and RPGR (ORF15). Mutations in these genes are associated with polycystic kidney disease and severe form of retinal degeneration.

The genes have been selected based on following criteria:

• Addition of well-known disease genes on utilizing both curated gene reviews and variant databases
• Identification of new disease-causing genes from most recent literature and databases
• Customer requests
• We have been balancing the clinical utility to include the most relevant genes, however excluding all preliminary genes