SAG - Oguchi disease type 1

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Congenital stationary night blindness

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: 181031
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443

Gene

CACNA1F - congenital stationary night blindness type 2A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 583

CACNA1F - congenital stationary night blindness type 2A



€ 583

CACNA1F - congenital stationary night blindness type 2A

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Congenital stationary night blindness

This product is also part of the following panels:

  • 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: 300110
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 583
Gene

GPR179 - congenital stationary night blindness type 1E, autosomal recessive

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

GPR179 - congenital stationary night blindness type 1E, autosomal recessive



€ 402

GPR179 - congenital stationary night blindness type 1E, autosomal recessive

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Congenital stationary night blindness

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: 614515
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

GRK1 - Oguchi disease type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

GRK1 - Oguchi disease type 2



€ 369

GRK1 - Oguchi disease type 2

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Congenital stationary night blindness

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: 180381
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

SAG - Oguchi disease type 1

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

SAG - Oguchi disease type 1



€ 443
Gene

TRPM1 - congenital stationary night blindness type 1C

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 533

TRPM1 - congenital stationary night blindness type 1C



€ 533

TRPM1 - congenital stationary night blindness type 1C

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Congenital stationary night blindness

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: 603576
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 533