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Ciliopathies: Comprehensive Panel Update

Based on recent scientific findings, we have updated our Panel for Ciliopathies (CIL). It is now available in version nine.

The total number of genes has been increased to 90, which further improves the likelihood of finding the causative variant. The Panel for Ciliopathies comprises the following gene sets:

  • Primary Ciliary Dyskinesia
  • Joubert Syndrome
  • Bardet-Biedl Syndrome
  • Senior-Loken Syndrome

This panel covers over 99.9% of the target region at a minimum of 30x, while the average coverage is over 900x.

The aforementioned gene sets are part of our large-panel approach to offer the treating physician all differential diagnostic options: We always sequence all 90 genes while focusing our analysis on the requested, individual gene set. If the disease causing mutation is not identified in the initial interpretation, we can extend the analysis to any desired gene set. In addition, we have added the option to analyze all 90 genes for pathogenic and likely pathogenic variants (ACMG classes 4 and 5).

The diagnostic yield is further increased by the standard interpretation of copy number variations (CNV).  Our CNV detection algorithm allows us to identify single exon deletions with a sensitivity of >81%. Larger deletions of three or more exons are detected with >96% sensitivity. Additionally, we validate our analysis using MLPA or qPCR once we find deletions or duplications that are associated with the patient’s phenotypes. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available – without extra fees.

For more information about this update please contact sales@cegat.de. The updated Panel for Ciliopathies is now available and can be requested here.