Large panel approach: The panel for genetic skeletal disorders covers 301 genes. All of these genes are sequenced simultaneously. We interpret all genes associated with the patient’s phenotype, referred to as a gene set.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants.
This diagnostic panel covers over 99,6% of the target region at a minimum of 30x, while the average coverage is over 800x.