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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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Maastricht UMC+
Authorized material(s): FFPE, EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
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).
Panel version: DG-4.0.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
Craniofacial anomalies panel with genome wide CNV analysis
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)
This test is inclusive genome wide CNV analysis.
Panel version:
DG-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Maastricht UMC+
Authorized material(s): FFPE, EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
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-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
