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)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 579 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

Panel version: DG 3.4
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 750

Exome

WES short stature/skeletal dysplasia

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

WES short stature/skeletal dysplasia




€ 750