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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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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 selected exons and flanking intron-exon boundaries
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
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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 selected exons and flanking intron-exon boundaries
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
