NL
panel Basal Laminar Drusen (CFH, CFI, CFB, C3)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Basal Laminar Drusen
- Conditions > Vision impairment / blindness > Basal Laminar Drusen
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
CFB - basal laminar drusen
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Basal Laminar Drusen
This product is also part of the following panels:
- Hemostatic/thrombotic disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Renal 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:
138470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH - basal laminar drusen
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Basal Laminar Drusen
- Conditions > Vision impairment / blindness > Basal Laminar Drusen
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hemostatic/thrombotic disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Renal disorders panel
- 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:
134370
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFI - basal laminar drusen
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Basal Laminar Drusen
- Conditions > Vision impairment / blindness > Basal Laminar Drusen
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hemostatic/thrombotic disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Renal 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:
217030
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
