NR3C2 - autosomal dominant pseudohypoaldosteronism type 1
This test is available for the following conditions:
- Conditions > Endocrine > Pseudohypoaldosteronism type 1
 - Conditions > Renal / Nephrological > Pseudohypoaldosteronism type 1
 
This product is also part of the following panels:
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency 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: 
600983                    
                    Performing laboratory: Radboudumc
                    Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
            
SCNN1A - autosomal recessive pseudohypoaldosteronism
This test is available for the following conditions:
- Conditions > Endocrine > Pseudohypoaldosteronism type 1
 - Conditions > Renal / Nephrological > Pseudohypoaldosteronism type 1
 
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
 
                    OMIM: 
600228                    
                    Performing laboratory: Radboudumc
                    Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
            
SCNN1G - autosomal recessive pseudohypoaldosteronism
This test is available for the following conditions:
- Conditions > Endocrine > Pseudohypoaldosteronism type 1
 - Conditions > Renal / Nephrological > Pseudohypoaldosteronism type 1
 
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
 
                    OMIM: 
600761                    
                    Performing laboratory: Radboudumc
                    Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane