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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLiddle syndrome 1-3

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the suspected Liddle syndrome 1-3

ID
LP0440
Number of genes
3 Accredited laboratory test
Examined sequence length
5,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SCNN1A2010NM_001038.6AD
SCNN1B1923NM_000336.3AD
SCNN1G1950NM_001039.4AD, AR

Informations about the disease

Clinical Comment

Severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin + aldosterone

 

Synonyms
  • Sy: early salt-sens. RR, hypokalemia, metabolic alkalosis, suppr. renin activity, aldost. secretion
  • Allelic: Bronchiectasis with/-out elevated sweat chloride 2, 1, 3 (SCNN1A, SCNN1B, SCNN1G)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1A, SCNN1B, SCNN1G)
  • Liddle syndrome 1 (SCNN1B)
  • Liddle syndrome 2 (SCNN1G)
  • Liddle syndrome 3 (SCNN1A)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined