NL
panel Dense Deposit Disease (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon, CFHR5)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
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 Dense Deposit Disease (CFHR1, CFHR2, CFHR3, CFHR4, THBD, DGKE, CFP, C2))
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
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
C3 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFB - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
- WES vision disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
CFH - S. Pneumoniae HUS
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
- WES vision disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
CFHR1 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES Mendelian inherited disorders (97.7% *)
- WES renal disorders (97.7% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
134371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFHR2 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
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 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES Mendelian inherited disorders (99.4% *)
- WES renal disorders (99.4% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
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 - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
CFI - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
DGKE - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
THBD - dense deposit disease
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
This product is also part of the following panels:
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
CFH operon - dense deposit disease (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
