Hereditary Eye Diseases: Comprehensive Panel Update

Based on recent scientific findings, we have updated our Panel for Hereditary Eye Diseases (EYE). It is now available in version nine. 64 genes associated with hereditary eye diseases are added. This increases the total number of genes to 384, further increasing the likelihood of finding the causative variant for hereditary eye diseases.

As part of the panel expansion, we have included new gene sets for the following phenotypes:

  • Glaucoma (gene set EYE23)
  • Corneal dystrophies (gene set EYE24)
  • Ectopia lentis (gene set EYE25)

Existing gene sets, such as optic atrophy (EYE17) or cataract (EYE21) have been expanded, further increasing the sensitivity of our analysis. In addition, our large-panel approach offers the treating ophthalmologist many differential diagnostic options: We always sequence all 384 genes while focusing our analysis on the requested gene set. If the disease causing mutation is not identified in the initial interpretation, we can easily extend the analysis to any desired gene set. In addition, we have added the option to analyse all 384 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 diagnostic-support@cegat.de. The updated Panel for Hereditary Eye Diseases is now available and can be requested here.