WES short stature/skeletal dysplasia
This test is available for the following conditions:
- Conditions > Endocrine > Short stature (WES)
- Conditions > Skeletal > Skeletal dysplasia
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive genomwide CNV analysis (starts at13-03-2024). This test can also detect Turner syndrome.
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
Panel version:
DG 3.8.1
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)