Short stature

Short stature/skeletal dysplasia panel with genome wide CNV analysis

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 genome wide CNV analysis (starts at 13-03-2024). 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-4.1.0

• Previous versions

  2025-01-21-DG-4-0-0
  2024-05-21-DG-3-9-0
  2024-02-25-DG-3-8-1
  2023-08-31-DG-3-7-0
  2023-04-05-DG-3-6-0
  2022-12-05-DG-3-5-0
  2022-04-19-DG-3-4-0
  2022-01-13-DG-3-3-0
  2021-09-16-DG-3-2-0
  2021-03-23-DG-3-1-0
  2020-12-02-DG-3-0-0
  2020-04-20-DG-2-1-8
  2019-12-06-DG-2-1-7
  2019-06-07-DG-2-1-6
  2019-01-31-DG-2-1-5

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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