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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

Turnaround time
Complete analysis: 6 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



€ 706
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Gene

ABCA4 - cone-rod dystrophy type 3

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706
View Add

ABCA4 - cone-rod dystrophy type 3


€ 706
Add
Gene

CABP4 - congenital nonprogressive cone-rod synaptic disorder

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

CABP4 - congenital nonprogressive cone-rod synaptic disorder


€ 345
Add

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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

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



€ 345
Add
Gene

GUCY2D - autosomal dominant cone-rod dystrophy type 6

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

GUCY2D - autosomal dominant cone-rod dystrophy type 6


€ 443
Add

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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

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
Add
Gene

PROM1 - cone-rod dystrophy type 12, autosomal dominant

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 525
View Add

PROM1 - cone-rod dystrophy type 12, autosomal dominant


€ 525
Add

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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

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



€ 525
Add