The Diagnostic Panels for Eye Diseases and Ciliopathies have been expanded. New gene sets have been incorporated, existing ones have been reorganized, and the range of diseases covered has been broadened. These changes ensure a more comprehensive genetic diagnostic approach for monogenic disorders affecting various parts of the eye, the optic nerve, and primary eye anomalies.
The main changes are as follows:
- a new gene set for orofaciodigital syndrome (CIL05) has been created.
- the disease spectrum of EYE26 now includes all inheritance types of nystagmus as well as foveal hypoplasia.
- the clinical spectrum of EYE28 has been expanded to include genes associated with strabismus.
- the autosomal dominant and recessive retinitis pigmentosa gene sets have been merged into a single, comprehensive set (EYE02).
- a total of 48 new genes have been added to the panels for Eye Diseases and Ciliopathies.
Our diagnostic panels are based on ExomeXtra®, our proprietary high-quality exome enrichment. It covers not only the coding regions but also includes most of the known disease-causing non-coding regions throughout the genome. In comparison to its counterparts and standard WGS, ExomeXtra® covers these medically relevant regions at higher coverage, thus providing higher sensitivity, which allows for the detection of even low-level mosaicism. Additionally, ExomeXtra® enables genome-wide CNV calling with a performance comparable to Array CGH, providing an ideal basis for comprehensive genetic diagnostics.
For more details on the updated Diagnostic Panels for Eye Diseases and Ciliopathies, please visit our website or send us an e-mail at diagnostic-support@cegat.com.