Liddle syndrome (pseudohyperaldosteronism) [7 genes]

Liddle syndrome is an autosomal dominant form of pseudoaldosteronism characterized by hypertension, hypokalemia, metabolic alkalosis, and renin-angiotensin-aldosterone system inhibition. This disorder is caused by defects in the subunits that constitute the epithelial sodium channel (ENaC). Some of the implicated genes can also cause pseudohypoaldosteronism type II, possibly due to the effect of genetic variants, which is why this panel also includes genes associated with the development of this disease.

  • Unknown
  • An estimated 6% of individuals with similar biochemistry could have Liddle syndrome

Identifying genetic variants causing Liddle syndrome allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when Liddle syndrome is suspected, which may include the following clinical characteristics:

  • Secondary hypertension
  • Hypokalemic metabolic alkalosis
  • Myalgia
  • Early onset (childhood)

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Liddle syndrome (pseudohyperaldosteronism)

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008455

Liddle syndrome (pseudohyperaldosteronism): View panel
  • CUL3
  • KLHL3
  • SCNN1A
  • SCNN1B
  • SCNN1G
  • WNK1
  • WNK4

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Mubarik A, Aeddula NR. Liddle Syndrome. 2020 Jan 13. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. PubMed PMID: 30725596.
  2. Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P. Liddle Syndrome: Review of the Literature and Description of a New Case. Int J Mol Sci. 2018 Mar 11;19(3). pii: E812. doi: 10.3390/ijms19030812. Review. PubMed PMID: 29534496; PubMed Central PMCID: PMC5877673.
  3. Yang KQ, Lu CX, Fan P, Zhang Y, Meng X, Dong XQ, Luo F, Liu YX, Zhang HM, Wu HY, Cai J, Zhang X, Zhou XL. Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. Clin Exp Hypertens. 2018;40(2):107-111. doi: 10.1080/10641963.2017.1334799. Epub 2017 Jul 18. Review. PubMed PMID: 28718682.