Liddle syndrome

SCNN1B - Liddle syndrome

This test is available for the following conditions:

• Conditions > Endocrine > Liddle syndrome
• Conditions > Renal / Nephrological > Liddle syndrome

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 selected exons and flanking intron-exon boundaries

Remarks
Liddle syndrome can be caused by activating mutations in the last exon of the SCNN1B gene. Therefore only this exon is analyzed.

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

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