NL
CEP164 - nephronophthisis type 15
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephronophthisis
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
614848
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHP1 - nephronophthisis type 1
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephronophthisis
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
607100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHP3 - nephronophthisis type 3
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephronophthisis
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
608002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHP4 - nephronophthisis type 4
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephronophthisis
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
607215
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
