Summary
Data informing the yield of next-generation sequencing-based multi-gene panel testing for individuals with cystic kidney disease is increasing. To add to this knowledge within the scientific community, we performed a retrospective review of 1,235 reports for patients with suspected cystic kidney disease receiving Blueprint Genetics Cystic Kidney Disease Panel or Polycystic Kidney Disease Panel. Key findings included the following:
- A positive result was identified in one of 20 genes, including PKD1, in 49.4% of reports
- Copy number variants (CNVs) accounted for 9.5% of positive results
- Suspicious variants of uncertain significance (VUS), where testing family members could result in a classification upgrade to likely pathogenic, were identified in 57.0% of inconclusive reports
These data show that panel testing can identify the molecular etiology of cystic kidney disease and, prior to ordering, should be carefully evaluated for gene content, capabilities for technically challenging genes like PKD1, sensitivity to detect CNVs, and reporting policy for VUS.
Authors:
Erin E. Tapper, Johanna M. Huusko, Alicia M. Scocchia, Kimberly Gall, Mary-Beth Roberts, Manuel Bernal-Quirós, Satu Valo, Inka Saarinen, Matias Rantanen, Tuuli Pietila, Massimiliano Gentile, Lotta Koskinen, Meenakshi Mahey Kumar, Samuel Myllykangas, Juha Koskenvuo
References:
- Tapper EE, Huusko JM, Scocchia AM, et al. Results of multi-gene panel testing, including PKD1, in >1,200 patients with cystic kidney disease: a retrospective analysis. Kidney Med. 2025;8(1):101186. doi: 10.1016/j.xkme.2025.101186
- Torres VE, Ahn C, Barten TRM, et al. KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary. Kidney Int. 2025;107(2):234-254. doi: 10.1016/j.kint.2024.07.010.