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:

** % 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 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




€ 542

Products Conditions Endocrine Liddle syndrome
Gene

SCNN1B - Liddle syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

SCNN1B - Liddle syndrome



€ 542
Gene

SCNN1G - Liddle syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

SCNN1G - Liddle syndrome



€ 542

SCNN1G - 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:

** % 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 selected exons and flanking intron-exon boundaries
Remarks
Liddle syndrome can be caused by activating mutations in the last exon of the SCNN1G gene. Therefore only this exon is analyzed.

OMIM: 600761
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542