NL
ARHGEF9 - early infantile epileptic encephalopathy type 8
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders 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:
300429
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ARX - early infantile epileptic encephalopathy type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Epilepsy panel
- Intellectual disability 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:
308350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CACNA1A - early infantile epileptic encephalopathy type 42
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CDKL5 - early infantile epileptic encephalopathy type 2
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial 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)
OMIM:
300672
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KCNT1 - infantile epileptic encephalopathy type 14
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders 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:
608167
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PCDH19 - early infantile epileptic encephalopathy type 9
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders 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:
300460
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PLCB1 - early infantile epileptic encephalopathy type 11
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607120
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN2A - early infantile epileptic encephalopathy type 11
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
182390
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN8A - early infantile epileptic encephalopathy type 13
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- Painful peripheral neuropathies panel¹
Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600702
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC25A22 - early infantile epileptic encephalopathy type 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial 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:
609302
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SPTAN1 - early infantile epileptic encephalopathy type 5
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
182810
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ST3GAL3 - early infantile epileptic encephalopathy type 15
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic 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:
606494
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
STXBP1 - early infantile epileptic encephalopathy type 4
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial 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:
602926
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TBC1D24 - early infantile epileptic encephalopathy type 16
This test is available for the following conditions:
- Conditions > Intellectual Disability > Early infantile epileptic encephalopathy (EIEE)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Hearing impairment panel (including GJB2)
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
615338
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
