Gene

ABCA4 - cone-rod dystrophy type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1069

ABCA4 - cone-rod dystrophy type 3



€ 1069

ABCA4 - cone-rod dystrophy type 3

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

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
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1069
Gene

CABP4 - congenital nonprogressive cone-rod synaptic disorder

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

CABP4 - congenital nonprogressive cone-rod synaptic disorder



€ 576

CABP4 - congenital nonprogressive cone-rod synaptic disorder

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

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: 608965
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 576
Gene

GUCY2D - autosomal dominant cone-rod dystrophy type 6

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

GUCY2D - autosomal dominant cone-rod dystrophy type 6



€ 710

GUCY2D - autosomal dominant cone-rod dystrophy type 6

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

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

PROM1 - cone-rod dystrophy type 12, autosomal dominant

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 822

PROM1 - cone-rod dystrophy type 12, autosomal dominant



€ 822

PROM1 - cone-rod dystrophy type 12, autosomal dominant

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

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: 604365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 822