Gene

AIPL1 - Leber congenital amaurosis type 4

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

AIPL1 - Leber congenital amaurosis type 4



€ 587

AIPL1 - Leber congenital amaurosis type 4

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 604392
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

CEP290 - Leber congenital amaurosis type 10 (NPHP6)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1170

CEP290 - Leber congenital amaurosis type 10 (NPHP6)



€ 1170

CEP290 - Leber congenital amaurosis type 10 (NPHP6)

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 610142
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1170
Gene

CRB1 - Leber congenital amaurosis type 8

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 710

CRB1 - Leber congenital amaurosis type 8



€ 710

CRB1 - Leber congenital amaurosis type 8

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 604210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

GUCY2D - Leber congenital amaurosis type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 710

GUCY2D - Leber congenital amaurosis type 1



€ 710

GUCY2D - Leber congenital amaurosis type 1

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 600179
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

LCA5 - Leber congenital amaurosis type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

LCA5 - Leber congenital amaurosis type 5



€ 654

LCA5 - Leber congenital amaurosis type 5

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 611408
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

LRAT - Leber congenital amaurosis type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 576

LRAT - Leber congenital amaurosis type 14



€ 576

LRAT - Leber congenital amaurosis type 14

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 604863
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 576
Gene

NMNAT1 - Leber congenital amaurosis type 9

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

NMNAT1 - Leber congenital amaurosis type 9



€ 587

NMNAT1 - Leber congenital amaurosis type 9

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 608700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

RDH12 - Leber congenital amaurosis type 13

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

RDH12 - Leber congenital amaurosis type 13



€ 632

RDH12 - Leber congenital amaurosis type 13

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 608830
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

RPE65 - Leber congenital amaurosis type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

RPE65 - Leber congenital amaurosis type 2



€ 654

RPE65 - Leber congenital amaurosis type 2

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 180069
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

RPGRIP1 - Leber congenital amaurosis type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 800

RPGRIP1 - Leber congenital amaurosis type 6



€ 800

RPGRIP1 - Leber congenital amaurosis type 6

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 605446
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 800
Gene

SPATA7 - Leber congenital amaurosis type 3

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

SPATA7 - Leber congenital amaurosis type 3



€ 665

SPATA7 - Leber congenital amaurosis type 3

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Leber Congenital Amaurosis

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: 609868
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 665