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:
- WES epilepsy (95.8% *)
- WES intellectual disability (95.8% *)
- WES Mendelian inherited disorders (95.8% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (96.7% *)
- WES epilepsy (96.7% *)
- WES intellectual disability (96.7% *)
- WES Mendelian inherited disorders (96.7% *)
- WES movement disorders (96.7% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (95.3% *)
- WES intellectual disability (95.3% *)
- WES Mendelian inherited disorders (95.3% *)
- WES mitochondrial disorders (95.3% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
KCNQ2 - early infantile epileptic encephalopathy type 7
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602235
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES painful peripheral neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (95.3% *)
- WES intellectual disability (95.3% *)
- WES Mendelian inherited disorders (95.3% *)
- WES metabolic disorders (95.3% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
