Services Exome sequencing diagnostics

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)

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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)

Remarks
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)

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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-4.3.0

• Previous versions

  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

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

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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-4.3.0

• Previous versions

  2025-07-01-DG-4-2-0
  2025-04-05-DG-4-1-0
  2025-01-21-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)

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Cardiac valve abnormalities panel¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Cardiac valve abnormalities

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

Method

• Exome analysis (WES or WGS data)

Remarks
Het Hartklep genpanel bevat ziektegenen beschreven als oorzaak voor nonsyndromale aortaklep-, mitralisklep-, pulmonalisklep- of tricuspidalisklep afwijkingen.
Het panel bevat dus niet de syndromale genen waarbij een hartklep afwijking een aanwezig onderdeel kan zijn van bijvoorbeeld het Marfan/Loeys Dietz syndroom;. Ook bevat dit panel niet alle TAAD (thoracale aorta aneurysma en/of dissectie) panel genen en niet alle CHD (congenitale hartziekten) panel genen. Bij verdenking hierop adviseren wij (een van) deze panels aan te vragen.
Indien een open exoom copy number variant (CNV) analyse gewenst is dient dit specifiek te worden aangevraagd.

De toegevoegde waarde van een open exoom analyse na een hartkleppanel is beperkt. Een open exome analyse is alleen aan te vragen door een klinisch geneticus.
 

Panel version: DG-4.3.0
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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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)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

Panel version: DG-4.3.0

• Previous versions

  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

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

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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

• Previous versions

  2025-10-04-DG-4-2-0

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

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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).
 

Panel version: DG-4.3.0

• Previous versions

  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

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

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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-4.3.0

• Previous versions

  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

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

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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)

Remarks
This test is inclusive genome wide CNV analysis.

Panel version: DG-4.3.0

• Previous versions

  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

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

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