NL
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
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
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
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
