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Abstract: SA-PO531

Whole Exome Sequencing (WES) Increases Diagnostic Yield in Renal Genetics Clinic (RGC) Patients With Previously Negative Multi-Gene Panel (MGP) Results

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


  • Tan, Xin Yee, Cleveland Clinic, Cleveland, Ohio, United States
  • Borden, Chloe, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, United States
  • Wang, Xiangling, Cleveland Clinic Genomic Medicine Institute, Cleveland, Ohio, United States

Genetic testings have been increasingly accessible to patients with kidney diseases.MGP covering up to hundreds of disease-related genes has been frequently used in clinical practice with high diagnostic yield.WES has been valuable in research settings but its utility in clinical setting has not been assessed.


Clinical characteristics and genetic findings of a cohort of patients referred to the Cleveland Clinic RGC who had WES performed in clinical setting were analyzed.


From January 2019 to March 2022,292 patients were evaluated in the RGC.Among these,54(18.5%)were suggested to have WES,including 33females and 21males aged 22.4±18.5 years old.WES was recommended as first tier testing for 23(42.6%)patients and last tier testing after nondiagnostic precedent tests for 31(57.4%)patients.Clinical presentations included electrolyte disorders(25.9%),glomerular diseases(22.2%), cystic kidney diseases(20.4%),congenital anomalies of kidney and urinary tract(16.7%),tubulointerstitial diseases (5.6%),multisystemic diseases(5.6%) and nephrolithiasis/ nephrocalcinosis(2.7%).50% reported a positive family history and 24.1% had dysmorphic features.9 patients did not proceed due to denial/lack of insurance coverage and 34out of 43patients who proceeded had results available(Figure1),of which 29.4%(10)had a positive result,29.4%(10) were found to have variant(s) of undetermined significance(VUS),5.9%(2)were identified as heterozygote carriers,and 22.2%(12)tested negative.7 out of 10 patients with positive results received a new or change in diagnosis.When performed as last tier testing after nondiagnostic precedent tests,WES had a diagnostic yield of 13%.


This study supports the clinical utility of WES in patients with suspected genetic kidney diseases as it evidently increases the diagnostic yield in patients with previous negative tests results.