This test is available for the following conditions:
- Conditions > Intellectual Disability > Ciliopathies (WES)
- Conditions > Multiple congenital anomalies (MCA) > Ciliopathies (WES)
Regular: 2-3 months / Rapid: 15 working days
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 184 genes.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)