Bartter Syndrome Precision Panel

Overview

• Bartter Syndrome is an autosomal recessive renal tubular disorder caused by a defective salt reabsorption in the thick ascending loop of Henle resulting in hypokalemia, hypochloremia, metabolic alkalosis, high renin and aldosterone with normal blood pressure. In neonatal cases, it can be suspected before birth and diagnosed soon after birth whereas in classic cases the presentation can begin at 2 years of age or younger. The genetic heterogeneity of this disease comes from genetic mutations in either the sodium chloride/potassium chloride cotransporter or the potassium channel transporter in the thick ascending loop of Henle.

• The Igenomix Bartter Syndrome Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

Indication

• The Igenomix Bartter Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Bartter Syndrome presenting with: 
  • Family history of Bartter Syndrome 
  • Maternal polyhydramnios 
  • Fetal fluid loss and volume depletion 
  • Failure to thrive  
  • Polyuria 
  • Polydipsia 
  • Vomiting  
  • Constipation 
  • Salt craving 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team in the form of medical care with potassium sparing diuretics, ion supplements and counselling regarding pregnancy-related considerations.  
• Risk assessment of asymptomatic family members according to the mode of inheritance. 
• Translation of genomic-informed medicine allowing for a better phenotype-genotype relationship.  

Genes & Diseases