TSPAN12 - familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

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: 613138
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377

Gene

FZD4 - dominant familial exudative vitreoretinopathy

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

FZD4 - dominant familial exudative vitreoretinopathy



€ 361

FZD4 - dominant familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

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: 604579
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

LRP5 - dominant familial exudative vitreoretinopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

LRP5 - dominant familial exudative vitreoretinopathy



€ 493

LRP5 - dominant familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia 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: 603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 493
Gene

LRP5 - recessive familial exudative vitreoretinopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

LRP5 - recessive familial exudative vitreoretinopathy



€ 542

LRP5 - recessive familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia 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: 603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

NDP - X-linked familial exudative vitreoretinopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

NDP - X-linked familial exudative vitreoretinopathy



€ 616

NDP - X-linked familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

This product is also part of the following panels:

  • Hearing impairment panel (including GJB2)
  • Intellectual disability panel with genome wide CNV analysis
  • 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
  • Deletion/duplication analysis (MLPA)
Remarks
MLPA analysis only if patient is a woman.

OMIM: 300658
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616
Gene

TSPAN12 - familial exudative vitreoretinopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

TSPAN12 - familial exudative vitreoretinopathy



€ 377
Gene

ZNF408 - dominant familial exudative vitreoretinopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

ZNF408 - dominant familial exudative vitreoretinopathy



€ 352

ZNF408 - dominant familial exudative vitreoretinopathy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy

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: 616468
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 352