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
This product is also part of the following panels:
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
SCNN1B - 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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600760
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
