WES amyotrophic lateral sclerosis, ALS
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
Turnaround time
Regular: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 22 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
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: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 163 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
WES comprehensive preconception carrier test ¹
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > PreConception carrier test (WES)
Turnaround time
4 months
Method
- Whole exome sequencing (WES)
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 (>2300 genes).
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
WES craniofacial anomalies
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Craniofacial anomalies (WES)
Turnaround time
Regular: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 171 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
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: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 135 genes.
There are mapping difficulties for the CYP21A2 gene in WES. To analyze variants in the CYP21A2 gene, a specific gene test is recommended.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
WES dyskeratosis congenita and aplastic anemia
This test is available for the following conditions:
- Conditions > Oncogenetics > Dyskeratosis congenita
Turnaround time
Regular: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 16 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
WES epilepsy
This test is available for the following conditions:
- Conditions > Neurological > Epilepsy (WES)
Turnaround time
Regular: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 346 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
WES fetal akinesia
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > Fetal akinesia
Turnaround time
Regular: 4 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 86 genes.
Panel version:
DG 3.00
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
