Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis

20250 citationsJournal Articlegold Open Access

Authors

Erin E. Tapper

Johanna M. Huusko · Blueprint Genetics (Finland)

Alicia Scocchia · Blueprint Genetics (Finland)

Kimberly Gall · Blueprint Genetics (Finland)

Mary-Beth Roberts · Cleveland Clinic

Manuel Bernal-Quirós · Blueprint Genetics (Finland)

Satu Valo · Blueprint Genetics (Finland)

Abstract

Thoughtful selection of carefully curated MGPT optimized to detect technically challenging variants can identify the molecular etiology in individuals presenting with CyKD. Further investigation of susVUS through segregation analysis in families may contribute to additional positive results.

Topics & Keywords

Genetic and Kidney Cyst Diseases Cystic Fibrosis Research Advances Genomics and Rare Diseases

Publication Details

Published in: Kidney Medicine

Volume 8, Issue 1, pp. 101186-101186

DOI: 10.1016/j.xkme.2025.101186

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Results of Multigene Panel Testing, Including PKD1, in &gt;1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis

Authors

Abstract

Topics & Keywords

Publication Details

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis