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Abstract: SA-PO555

Clinical and Diagnostic Utility of Genomic Sequencing for Children With Microscopic Haematuria in a Kidney Genomics Clinic

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Shanks, Josiah, Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia
  • Quinlan, Catherine, Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia

Microscopic haematuria (MH) in children is associated with the risk of progression to chronic kidney disease. Genetic disease including Alport syndrome is an important potential aetiology.


We conducted a retrospective review of the electronic medical records of patients referred to a Kidney Genomics Clinic (KGC) with MH from 2016 to 2021; this period covers both pre- and post-government funded genomic sequencing for MH. Data were collected including demographics, investigations and diagnosis prior to referral, tests undertaken by the clinic, and the diagnostic and clinical utility of these genetic tests.


Sixty patients were referred to the KGC with MH over a six-year period. Mean age at referral was 8.8 years and most (73%) were referred for diagnosis of an undifferentiated disease. At time of review, 10 (17%) patients’ genetic results were outstanding. Of those with results, 26 (52%) received a genetic diagnosis for their haematuria. The most common diagnosis was X-linked Alport Syndrome (12/26, 46%), followed by Autosomal Dominant Alport Syndrome (10/26, 38%), and two cases each of Autosomal Recessive Alport Syndrome and Dent’s disease. 11/50 (22%) had a variant of uncertain significance (VUS) in a phenotypically concordant gene.
The diagnostic yield dropped from 74% to 36% after the introduction of government-funded genomic sequencing for paediatric MH. The average degree of haematuria and proteinuria also decreased after the introduction of government-funding for genomic sequencing suggesting the bar for testing has been lowered. We found a higher diagnostic yield of 54% amongst male patients compared to 28% amongst female patients, despite females being affected twice as often by X-linked disease than males.


Our KGC review highlights the substantial clinical utility of genetic analysis for microscopic haematuria in paediatric patients and the important role that government-funded genomic sequencing can play in providing equitable and early access to gold standard testing. The testing is non-invasive and has a high diagnostic yield. A multidisciplinary team including appropriate genetic counselling can help ensure these patients are followed up meaningfully.