NL
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
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
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
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)
MLPA analysis only if patient is a woman.
OMIM:
300658
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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
