WES Mendelian inherited disorders
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Mendelian inherited disorders (WES)
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive genomewide CNV analysis.The panel contains 5009 genes.
Panel version:
DG 3.6
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)