NL
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:
- 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:
607604
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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:
- 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:
600827
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
