Gene

ARHGEF9 - early infantile epileptic encephalopathy type 8

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 665

ARHGEF9 - early infantile epileptic encephalopathy type 8



€ 665

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:

** % 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




€ 665
Gene

ARX - early infantile epileptic encephalopathy type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

ARX - early infantile epileptic encephalopathy type 1



€ 587

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:

** % 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




€ 587
Gene

CACNA1A - early infantile epileptic encephalopathy type 42

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1058

CACNA1A - early infantile epileptic encephalopathy type 42



€ 1058

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:

** % 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




€ 1058
Gene

CDKL5 - early infantile epileptic encephalopathy type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1148

CDKL5 - early infantile epileptic encephalopathy type 2



€ 1148

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:

** % 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




€ 1148
Gene

KCNQ2 - early infantile epileptic encephalopathy type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 722

KCNQ2 - early infantile epileptic encephalopathy type 7



€ 722

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:

** % 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




€ 722
Gene

KCNT1 - infantile epileptic encephalopathy type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 834

KCNT1 - infantile epileptic encephalopathy type 14



€ 834

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:

** % 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




€ 834
Gene

PCDH19 - early infantile epileptic encephalopathy type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 597

PCDH19 - early infantile epileptic encephalopathy type 9



€ 597

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:

** % 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




€ 597
Gene

PLCB1 - early infantile epileptic encephalopathy type 11

Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Performing laboratory
Radboudumc
€ 900

PLCB1 - early infantile epileptic encephalopathy type 11



€ 900

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:

** % 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




€ 900
Gene

SCN2A - early infantile epileptic encephalopathy type 11

Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Performing laboratory
Radboudumc
€ 833

SCN2A - early infantile epileptic encephalopathy type 11



€ 833

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:

** % 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




€ 833
Gene

SCN8A - early infantile epileptic encephalopathy type 13

Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Performing laboratory
Radboudumc
€ 750

SCN8A - early infantile epileptic encephalopathy type 13



€ 750

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:

** % 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




€ 750
Gene

SLC25A22 - early infantile epileptic encephalopathy type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

SLC25A22 - early infantile epileptic encephalopathy type 3



€ 609

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:

** % 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




€ 609
Gene

SPTAN1 - early infantile epileptic encephalopathy type 5

Turnaround time
12 weeks
Performing laboratory
Radboudumc
€ 1002

SPTAN1 - early infantile epileptic encephalopathy type 5



€ 1002

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:

** % 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




€ 1002
Gene

ST3GAL3 - early infantile epileptic encephalopathy type 15

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 677

ST3GAL3 - early infantile epileptic encephalopathy type 15



€ 677

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:

** % 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




€ 677
Gene

STXBP1 - early infantile epileptic encephalopathy type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 744

STXBP1 - early infantile epileptic encephalopathy type 4



€ 744

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:

** % 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




€ 744
Gene

TBC1D24 - early infantile epileptic encephalopathy type 16

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 620

TBC1D24 - early infantile epileptic encephalopathy type 16



€ 620

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:

** % 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




€ 620