Pseudohypoaldosteronism

KLHL3 - pseudohypoaldosteronism type IID

This test is available for the following conditions:

• Conditions > Endocrine > Pseudohypoaldosteronism
• Conditions > Renal / Nephrological > Pseudohypoaldosteronism

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel
• 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: 605775
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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WNK4 - pseudohypoaldosteronism type IIB

This test is available for the following conditions:

• Conditions > Endocrine > Pseudohypoaldosteronism
• Conditions > Renal / Nephrological > Pseudohypoaldosteronism

This product is also part of the following panels:

• Mendelian inherited disorders panel
• 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: 601844
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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