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

Exome

Amyotrophic lateral sclerosis, ALS panel

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

Amyotrophic lateral sclerosis, ALS panel




€ 750

Amyotrophic lateral sclerosis, ALS panel

This test is available for the following conditions:

  • Conditions > Neurological > Amyotrophic lateral sclerosis

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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
Exome

Aritmogene cardiomyopathy panel¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 750

Aritmogene cardiomyopathy panel¹




€ 750

Aritmogene cardiomyopathy panel¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Arrhythmogenic right ventricular cardiomyopathy (ARVD)
  • Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM/ACM)

Turnaround time
8 weeks

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

Panel version: DG-3.9.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Exome

Arrhythmia and cardiac conduction disorders panel¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 750

Arrhythmia and cardiac conduction disorders panel¹




€ 750

Arrhythmia and cardiac conduction disorders panel¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Long QT syndrome
  • Conditions > Cardiovascular > Short QT syndrome
  • Conditions > Cardiovascular > Sick sinus syndrome

Turnaround time
8 weeks

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

Panel version: DG-3.9.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Exome

Ciliopathies panel

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

Ciliopathies panel




€ 750

Ciliopathies panel

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Ciliopathies (WES)
  • Conditions > Multiple congenital anomalies (MCA) > Ciliopathies (WES)

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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
Exome

Comprehensive preconception carrier test panel¹

Turnaround time
Regular: 2 months / Rapid: 4 weeks
Performing laboratory
Maastricht UMC+
€ 1275

Comprehensive preconception carrier test panel¹




€ 1275

Comprehensive preconception carrier test panel¹

This test is available for the following conditions:

  • Conditions > Fertility and pregnancy > PreConception carrier test (WES)

Turnaround time
Regular: 2 months / Rapid: 4 weeks

Method

  • Exome analysis (WES or WGS data)
Remarks
The PreConception carrier test (PCT) has been specifically developed for consanguineous couples with a childwish and constitutes a pre-conception risk assessment for the transmission of recessive disease, providing clinically relevant reproductive options for couples. The test is based on diagnostic WES (NGS) technology and interrogates a continuously updated mendelian panel of genes associated with recessive disorders (n>2000).
 

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





€ 1275
Exome

Congenital heartdisease panel¹

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

Congenital heartdisease panel¹




€ 750

Congenital heartdisease panel¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

Panel version: DG-3.9.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Exome

Craniofacial anomalies panel

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

Craniofacial anomalies panel




€ 750

Craniofacial anomalies panel

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Craniofacial anomalies (WES)

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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
Exome

Dilated cardiomyopathy panel¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 750

Dilated cardiomyopathy panel¹




€ 750

Dilated cardiomyopathy panel¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM/ACM)

Turnaround time
8 weeks

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

Panel version: DG-3.9.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Exome

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel

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

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel




€ 750

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel

This test is available for the following conditions:

  • Conditions > Disorders in sex development > Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (WES)
  • Conditions > Endocrine > Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (WES)

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

There are mapping difficulties for the CYP21A2 gene in WES. To analyze variants in the CYP21A2 gene, a specific gene test is recommended.

The genes from the panels WES Hypogonadotropic hypogonadism and WES Premature Ovarian Insufficiency are included in this panel.

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
Exome

Dyskeratosis congenita and aplastic anemia panel

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

Dyskeratosis congenita and aplastic anemia panel




€ 750

Dyskeratosis congenita and aplastic anemia panel

This test is available for the following conditions:

  • Conditions > Oncogenetics > Dyskeratosis congenita

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

Method

  • Exome analysis (WES or WGS data)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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