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Updated: Jul 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Data Derived Disease Diagnostics
Gráinne Butler1,2,3,4, Josiah Shanks1, Jim Buttery2,3,4,5
1Department of Nephrology, Royal Children's Hospital, Melbourne.
Microscopic haematuria is a common incidental finding in childhood which often resolves on its own. However, it can be an early marker of genetic kidney disease. It is best practice to repeat testing to ensure resolution. Using data from the electronic medical record, we set out to find children without follow up, offer testing, and look for genetic kidney disease.
Microscopic haematuria is a common incidental finding in childhood which often resolves on its own. However, it can be an early marker of genetic kidney disease. It is best practice to repeat testing to ensure resolution. Using data from the electronic medical record, we set out to find children without follow up, offer testing, and look for genetic kidney disease.
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