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ADAMTS13 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
- 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:
274150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
C3 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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:
120700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFB - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
CFHR1 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
- Conditions > Hematological, hereditary > Thrombotic Thrombocytopenic Purpura (TTP)
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:
134371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFHR2 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
CFI - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
DGKE - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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 - thrombotic thrombocytopenic purpura
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
CFH operon - thrombotic thrombocytopenic purpura (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombotic Thrombocytopenic Purpura (TTP)
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
