NL
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
Open exoom uitsluitend aan te vragen door klinisch genetici.
Performing laboratory: Radboudumc & Maastricht UMC+
WES amyotrophic lateral sclerosis, ALS
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
Turnaround time
Regular: 2-3 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 27 genes.
Panel version:
DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
WES aritmogene cardiomyopathy ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)
Turnaround time
8 weeks
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 9 genes.
Panel version:
DG 3.6
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
WES arrhythmia and cardiac conduction disorders ¹
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
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 26 genes.
Panel version:
DG 3.6
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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: 2-3 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 184 genes.
Panel version:
DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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: 2 months / Rapid: 4 weeks
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 mendelian panel of genes associated with recessive disorders (n>2000).
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
WES congenital heartdisease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
Turnaround time
Regular: 2-3 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 85 genes.
Panel version:
DG 3.6
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
WES craniofacial anomalies
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
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 191 genes.
Panel version:
DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
WES dilated cardiomyopathy ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)
Turnaround time
8 weeks
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 21 genes.
Panel version:
DG 3.6
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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: 2-3 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 161 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 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
