Panel diagnostics: The panel for genetic ciliopathies covers 111 genes. All these genes are sequenced simultaneously, as part of the CeGaT ExomeXtra®. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. Additionally, mtDNA is part of the enrichment.
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 has a sensitivity of >99.9% for the heterozygous variant; the average coverage is >120x.