WES short stature/skeletal dysplasia
This test is available for the following conditions:
- Conditions > Endocrine > Short stature (WES)
- Conditions > Skeletal > Skeletal dysplasia
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 614 genes.
There are mapping difficulties for the SHOX and RMRP gene in WES. To analyze variants in the SHOX and RMRP gene a specific gene test is recommended.
Short stature/skeletal dysplasia is often ordered via the following test:
SHOX - idiopathic (familial) short stature
RMRP - cartilage-hair hypoplasia
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)