WES short stature/skeletal dysplasia
This test is available for the following conditions:
- Conditions > Endocrine > Short stature (WES)
- Conditions > Skeletal > Skeletal dysplasia
Regular: 4 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 521 genes.
There are mapping difficulties for the SHOX gene in WES. To analyze variants in the SHOX gene a specific gene test is recommended.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA