NL
ABCA4 - Stargardt disease type 1
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Stargardt disease
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: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Analysis of one or more specific deletions
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."
OMIM:
601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PROM1 - Stargardt disease type 4
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Stargardt disease
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:
604365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ABCA4 - Stargardt disease type 1 (MLPA)
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Stargardt disease
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
- Deletion/duplication analysis (MLPA)
OMIM:
601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
