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FKRP - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Fetal akinesia panel
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606596
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LAMA2 - congenital merosin-deficient muscular dystrophy type 1A
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
- Polyneuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
156225
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LARGE1 - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
MLPA analysis if only one variant has been found in an autosomal recessive disease or in case of a carrier analysis.
OMIM:
603590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
POMGNT1 - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606822
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
POMGNT2 - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614828
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
POMT1 - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
- Orofacial clefting panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607423
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
POMT2 - Walker Warburg syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RAB18 - Warburg micro syndrome type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602207
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RAB3GAP1 - Warburg micro syndrome type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602536
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RAB3GAP2 - Warburg micro syndrome type 2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
- Conditions > Neuromuscular > Walker-Warburg (-like) syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
609275
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
