NL
BEST1 - vitelliform macula dystrophy type 2
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Vitelliform Macular Dystrophy
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:
607854
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IMPG1 - vitelliform macula dystrophy type 4
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Vitelliform Macular Dystrophy
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:
602870
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IMPG2 - vitelliform macula dystrophy type 5
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Vitelliform Macular 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:
607056
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
