NL
Age-related macular degeneration panel
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Age-related Macular Degeneration (AMD)
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Exome analysis (WES or WGS data)
Panel version:
DG-4.3.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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-4.3.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.3.0
Authorized material(s): FFPE, 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-4.3.0
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 > Multiple congenital anomalies (MCA) > Ciliopathies (WES)
- Conditions > Gastric-Intestinal-Liver > Ciliopathies (WES)
- Conditions > Renal / Nephrological > Ciliopathies (WES)
- Conditions > Vision impairment / blindness > 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-4.3.0
-
2025-07-01-DG-4-2-0
2025-04-05-DG-4-1-0
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
2018-04-13-DG-2-1-3
2018-03-08-DG-2-1-2
2017-12-08-DG-2-1-1
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
Complement mediated renal disease panel
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
- Conditions > Complement-mediated diseases > C3-Glomerulonephritis
- Conditions > Complement-mediated diseases > C3-Glomerulopathy
- Conditions > Complement-mediated diseases > Complement-mediated kidney disease
- Conditions > Complement-mediated diseases > Complement Nephropathy
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
- Conditions > Complement-mediated diseases > Kidney Transplantation
- Conditions > Complement-mediated diseases > Membranoproliferative Glomerulonephritis (MPGN)
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
- Conditions > Complement-mediated diseases > STEC-HUS
- Conditions > Complement-mediated diseases > Thrombotic microangiopathy (TMA)
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Exome analysis (WES or WGS data)
Panel version:
DG-4.3.0
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-4.3.0
-
2025-07-01-DG-4-2-0
2025-04-05-DG-4-1-0
2025-01-21-DG-4-0-0
2024-05-21-DG-3-9-0
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)
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-4.3.0
-
2025-07-01-DG-4-2-0
2025-04-05-DG-4-1-0
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
2018-04-13-DG-2-1-3
2018-03-08-DG-2-1-2
2017-12-08-DG-2-1-1
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-4.3.0
-
2025-07-01-DG-4-2-0
2025-04-05-DG-4-1-0
2025-01-21-DG-4-0-0
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
2018-04-13-DG-2-1-3
2018-03-08-DG-2-1-2
2017-12-08-DG-2-1-1
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-4.3.0
Authorized material(s): FFPE, EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
