Exome

Short stature/skeletal dysplasia panel

Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 750

Short stature/skeletal dysplasia panel




€ 750

Short stature/skeletal dysplasia panel

This test is available for the following conditions:

  • Conditions > Endocrine > Short stature
  • Conditions > Skeletal > Skeletal dysplasia

Turnaround time
Regular: 2-3 months / Rapid: 15 working days

Method

  • Exome analysis (WES or WGS data)
Remarks
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-3.9.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750