ASN's Mission

ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005


The Latest on Twitter

Kidney Week

Abstract: PO2068

Utility of Genetic Testing in Kidney Transplant Evaluation

Session Information

Category: Transplantation

  • 1902 Transplantation: Clinical


  • Beretich, Lauren, Natera, Inc., San Carlos, California, United States
  • Singh, Neeraj, John C. McDonald Regional Transplant Center, Shreveport, Louisiana, United States
  • Palermini, Arianna, Arkansas College of Osteopathic Medicine, Fort Smith, Arkansas, United States
  • Qamar, Aleeza, John C. McDonald Regional Transplant Center, Shreveport, Louisiana, United States
  • Luksic, Daniel, Natera, Inc., San Carlos, California, United States
  • McCormick, Sarah, Natera, Inc., San Carlos, California, United States
  • Tabriziani, Hossein, Natera, Inc., San Carlos, California, United States
  • Billings, Paul Richard, Natera, Inc., San Carlos, California, United States

Genetic testing is an emerging tool in pre-kidney transplant (KT) evaluations for individuals with end-stage renal disease (ESRD). A known genetic etiology can inform the risk of disease recurrence, guide transplant management, and enable evaluation of living related donors. Despite these benefits, there is a paucity of literature describing the use of diagnostic genetic testing as part of the pre-KT evaluation. Here we describe the initial experience incorporating a broad renal genetic testing panel for KT candidates in one Louisiana center.


A retrospective review was conducted on 31 patients that underwent a KT evaluation in April 2021 with RenasightTM, a NGS-based >380-gene kidney disease test. The patients were primarily female (20/31), African American (16/31), and <50 years of age (17/31). The primary clinical causes of CKD were hypertension (HTN) and/or diabetes (20/31).


Positive findings were identified in 32.3% (10/31) of patients in the APOL1, CFI, COL4A4, and PKD2 genes. Additionally, 29.0% (9/31) of the patients were identified as heterozygous carriers of autosomal recessive conditions. Of the positive cases, 60% (6/10) were either homozygous or compound heterozygous for the G1 and G2 risk alleles in the APOL1 gene. One individual, heterozygous for a likely pathogenic variant (c.57+1G>C) in the CFI gene, associated with atypical hemolytic uremic syndrome, along with biopsy-proven thrombotic microangiopathy was tested for complement proteins in plasma. Due to the potential increased risk of recurrence, simultaneous liver-kidney transplant and Eculizumab was considered.


In this initial experience, kidney genetic testing was an informative tool resulting in a change in patient management. The genetic testing yield in this cohort is likely enriched as many of these patients had a positive family history of kidney disease, significant proteinuria, or ESRD attributed to HTN. Genetic testing in pre-KT patients has potential clinical impact on post-KT management and selection of living-related donors. Further research is needed to describe the utility of genetic testing for kidney transplant candidates.