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Exome

Reanalysis or Open exome analysis

Turnaround time
2 months

Performing laboratory
Radboudumc & Maastricht UMC+

€ 400

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Reanalysis or Open exome analysis

OPEN_EXOOM

Re-analysis of previous sequenced data

Open exome analysis

€ 400

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Reanalysis or Open exome analysis

This test is available for the following conditions:

Conditions > Other > Reanalysis / Open exome analysis

Turnaround time
2 months

Method

Exome data analysis on previous sequenced data

Performing laboratory: Radboudumc & Maastricht UMC+

OPEN_EXOOM

Re-analysis of previous sequenced data Important: state in the order process for which panel(s) you wish to request a re-analysis

Open exome analysis Important: state in the ordering process the family number of the previous package analysis on which you now want to request an open exome analysis.

€ 400

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Exome

WES amyotrophic lateral sclerosis, ALS

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

Performing laboratory
Radboudumc

€ 990

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WES amyotrophic lateral sclerosis, ALS

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES amyotrophic lateral sclerosis, ALS

This test is available for the following conditions:

Conditions > Neurological > Amyotrophic lateral sclerosis

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 27 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Gene panel analysis and exome wide analysis- 2 separate reports Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

€ 990

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Exome

WES ciliopathies

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

Performing laboratory
Radboudumc

€ 990

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WES ciliopathies

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES ciliopathies

This test is available for the following conditions:

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

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 172 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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Exome

WES comprehensive preconception carrier test ¹

Turnaround time
Regular: 3 months / Rapid: 30 working days

Performing laboratory
Maastricht UMC+

€ 1700

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WES comprehensive preconception carrier test ¹

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Kind of analysis

Duo analysis for consanguineous couples – TAT: 3 months

Rapid duo analysis for consanguineous couples – TAT: 30 business days

€ 1700

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WES comprehensive preconception carrier test ¹

This test is available for the following conditions:

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

Turnaround time
Regular: 3 months / Rapid: 30 working days

Method

Whole exome sequencing (WES)

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 MIM-based panel of genes associated with recessive disorders (>2360 genes).

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Kind of analysis

Duo analysis for consanguineous couples – TAT: 3 months

Rapid duo analysis for consanguineous couples – TAT: 30 business days

€ 1700

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Exome

WES congenital heartdisease ¹

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

Performing laboratory
Maastricht UMC+

€ 990

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WES congenital heartdisease ¹

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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Exome

WES craniofacial anomalies

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

Performing laboratory
Radboudumc

€ 990

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WES craniofacial anomalies

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES craniofacial anomalies

This test is available for the following conditions:

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

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 186 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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Exome

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

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

Performing laboratory
Radboudumc

€ 990

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

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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

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: 3 months / Rapid: 15 working days

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 149 genes.

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 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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Exome

WES dyskeratosis congenita and aplastic anemia

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

Performing laboratory
Radboudumc

€ 990

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WES dyskeratosis congenita and aplastic anemia

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES dyskeratosis congenita and aplastic anemia

This test is available for the following conditions:

Conditions > Oncogenetics > Dyskeratosis congenita

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 16 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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Exome

WES epilepsy

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

Performing laboratory
Radboudumc

€ 990

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WES epilepsy

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES epilepsy

This test is available for the following conditions:

Conditions > Neurological > Epilepsy (WES)

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 368 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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Exome

WES fetal akinesia

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

Performing laboratory
Radboudumc

€ 990

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WES fetal akinesia

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 990

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WES fetal akinesia

This test is available for the following conditions:

Conditions > Fertility and pregnancy > Fetal akinesia

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

Method

Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 95 genes.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 3 months

Trio/de novo analysis of proband and both parents - TAT: 3 months

Single analysis of proband only - TAT: 3 months

€ 990

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