Services Exome sequencing diagnostics

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-4.2.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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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-4.2.0

• Previous versions

  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-4.2.0

• Previous versions

  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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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-4.2.0

• Previous versions

  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

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-4.2.0

• Previous versions

  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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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-4.2.0

• Previous versions

  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

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

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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-4.2.0

• Previous versions

  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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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-4.2.0

• Previous versions

  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

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

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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-4.2.0

• Previous versions

  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

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

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