Gene

AIPL1 - Leber congenital amaurosis type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 353

AIPL1 - Leber congenital amaurosis type 4



€ 353

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




€ 353
Gene

CEP290 - Leber congenital amaurosis type 10 (NPHP6)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 781

CEP290 - Leber congenital amaurosis type 10 (NPHP6)



€ 781

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




€ 781
Gene

CRB1 - Leber congenital amaurosis type 8

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

CRB1 - Leber congenital amaurosis type 8



€ 443

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




€ 443
Gene

GUCY2D - Leber congenital amaurosis type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

GUCY2D - Leber congenital amaurosis type 1



€ 443

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




€ 443
Gene

LCA5 - Leber congenital amaurosis type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

LCA5 - Leber congenital amaurosis type 5



€ 402

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




€ 402
Gene

LRAT - Leber congenital amaurosis type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

LRAT - Leber congenital amaurosis type 14



€ 345

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




€ 345
Gene

NMNAT1 - Leber congenital amaurosis type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 353

NMNAT1 - Leber congenital amaurosis type 9



€ 353

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




€ 353
Gene

RDH12 - Leber congenital amaurosis type 13

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

RDH12 - Leber congenital amaurosis type 13



€ 386

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




€ 386
Gene

RPE65 - Leber congenital amaurosis type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

RPE65 - Leber congenital amaurosis type 2



€ 402

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




€ 402
Gene

RPGRIP1 - Leber congenital amaurosis type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

RPGRIP1 - Leber congenital amaurosis type 6



€ 509

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




€ 509
Gene

SPATA7 - Leber congenital amaurosis type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

SPATA7 - Leber congenital amaurosis type 3



€ 410

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




€ 410