Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis
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.
Authors
- Erin E. Tapper (ORCID: https://orcid.org/0000-0002-0383-0806)
- Satu Valo
- Lars‐Owe Koskinen (ORCID: https://orcid.org/0000-0003-3528-8502)
- Mary-Beth Roberts
- Matias Rantanen
- Juha Koskenvuo (ORCID: https://orcid.org/0000-0002-2306-2883)
- Alicia Scocchia (ORCID: https://orcid.org/0000-0003-1974-6251)
- Manuel Bernal-Quirós (ORCID: https://orcid.org/0000-0002-7511-2774)
- Meenakshi Mahey Kumar (ORCID: https://orcid.org/0000-0002-8534-8975)
- Tuuli Pietilä
- Kimberly Gall (ORCID: https://orcid.org/0000-0001-9203-4985)
- Johanna M. Huusko
- Inka Saarinen (ORCID: https://orcid.org/0000-0001-8079-379X)
- Samuel Myllykangas
- Massimiliano Gentile
Institutions
- Cleveland Clinic (US)
- Augustana University (US)
- Blueprint Genetics (Finland) (FI)
Publication Details
- Journal
- Kidney Medicine
- Published
- 2025-11-17
- DOI
- https://doi.org/10.1016/j.xkme.2025.101186
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00