NL
AQP2 - autosomal dominant nephrogenic diabetes insipidus
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Diabetes insipidus
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
107777
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
AQP2 - autosomal recessive nephrogenic diabetes insipidus
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Diabetes insipidus
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
107777
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
AVP - central diabetes insipidus
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Diabetes insipidus
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:
192340
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
AVPR2 - X-linked nephrogenic diabetes insipidus
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Diabetes insipidus
This product is also part of the following panels:
- Intellectual disability panel with genome wide CNV analysis
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
300538
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
