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Short stature/skeletal dysplasia panel

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

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 3.8.1
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

Rapid Single analysis of proband only - TAT: <15 business days This test is designed for severe/life-threatening conditions or conditions in need of gene-specific treatment options AND when trio/de novo analysis is not an option or common practice.

€ 750

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