PDE6C - cone dystrophy type 4

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone dystrophy

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES vision disorders (% *)

* % 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: 600827
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492

Gene

KCNV2 - retinal cone dystrophy type 3B, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

KCNV2 - retinal cone dystrophy type 3B, autosomal recessive



€ 361

KCNV2 - retinal cone dystrophy type 3B, autosomal recessive

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone dystrophy

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES vision disorders (% *)

* % 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: 607604
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

OPN1LW,OPN1MW - X-linked cone dystrophy

Turnaround time
2 months
Performing laboratory
Radboudumc
€ 818

OPN1LW,OPN1MW - X-linked cone dystrophy



€ 818

OPN1LW,OPN1MW - X-linked cone dystrophy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone dystrophy

Turnaround time
2 months

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 303900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 818
Gene

PDE6C - cone dystrophy type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

PDE6C - cone dystrophy type 4



€ 492