NL
panel S. Pneumoniae HUS (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
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
panel S. Pneumoniae HUS (CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, THBD, DGKE, CFP, C2))
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
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 - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
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
CFHR2 - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600889
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFHR3 - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
605336
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFHR4 - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
605337
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFHR5 - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
608593
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DGKE - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
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
- Metabolic disorders 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:
601440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MCP - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120920
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
THBD - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > S. Pneumoniae HUS
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:
188040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
