NL
C1QA - C1q-deficiency
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C1q-deficiency
- Conditions > Skin > C1q-deficiency
- Conditions > Immunological, hereditary > C1q-deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120550
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
C1QB - C1q-deficiency
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C1q-deficiency
- Conditions > Skin > C1q-deficiency
- Conditions > Immunological, hereditary > C1q-deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120570
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
