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)
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
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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
2018-10-08-DG-2-1-4
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)