Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Approximately 50% of individuals with ADPKD develop end-stage renal disease (ESRD) by the age of 60 years. ADPKD is caused primarily by mutations in two genes, PKD1 and PKD2, encoding polycystin 1 and 2, which are essential components of epithelial cilia.
Genetic testing has become an important factor in the management of ADPKD patients and their families. However, analysis of PKD1 is technically challenging due to its large size, high GC-content, and duplication of the first 33 exons with a high degree of homology (90-99% identity) to six nearby pseudogenes (PKD1P1–P6).
We evaluated the diagnostic yield and performance of our in-house tailored Polycystic Kidney Disease and Cystic Kidney Disease Panels, including in total 42 genes, in an unselected cohort of patients referred for cystic kidney diseases.
Keywords: Autosomal dominant polycystic kidney disease (ADPKD), PKD1 gene, PKD2 gene, next-generation sequencing (NGS), mapping quality, coverage, diagnostic yield
Authors: Satu Valo, Jonna Tallila, Hannu Jalanko, Johanna Sistonen, Annakarin Korppoo, Kim Gall, Mikko Muona, Pertteli Salmenperä, Massimiliano Gentile, Samuel Myllykangas,
Tero-Pekka Alastalo, Juha Koskenvuo