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



€ 393
Add
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Gene

NR3C2 - autosomal dominant pseudohypoaldosteronism type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393
View Add

NR3C2 - autosomal dominant pseudohypoaldosteronism type 1


€ 393
Add
Gene

SCNN1A - autosomal recessive pseudohypoaldosteronism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385
View Add

SCNN1A - autosomal recessive pseudohypoaldosteronism


€ 385
Add

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



€ 385
Add
Gene

SCNN1B - autosomal recessive pseudohypoaldosteronism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410
View Add

SCNN1B - autosomal recessive pseudohypoaldosteronism


€ 410
Add

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:

  • 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: 600760
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 410
Add
Gene

SCNN1G - autosomal recessive pseudohypoaldosteronism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402
View Add

SCNN1G - autosomal recessive pseudohypoaldosteronism


€ 402
Add

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



€ 402
Add