Nephrology
Bartter Syndrome Panel
Overview
Test Name
Test Code
Test Category
Test Subcategory
Disease(s) Targeted
Who Is The Test For?
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
Panel Content
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About Bartter syndrome
Bartter syndrome is a rare inherited group of disorders affecting kidney tubular function. It is characterized by several electrolyte abnormalities including loss of sodium, potassium, and chloride in the urine, leading to symptoms like low blood pressure, muscle weakness, and dehydration. Its prevalence is estimated to be about 1 in 1 million individuals. The most common genetic causes involve variants in genes like SLC12A1 and KCNJ1, which code for membrane proteins that are responsible for reabsorbing salt/electrolytes in the kidney. Bartter syndrome mainly follows an autosomal recessive inheritance pattern.
Gene Panel Workflow
Order a test using our clinical portal
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