ArticleThe Journal of molecular diagnostics : JMD2012
A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.
Article in The Journal of molecular diagnostics : JMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 52 citations in OpenAlex.
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.Global medical genetics · 2026Review
- Designing genome editing experiments with EditABLE.Genome biology · 2026Article
- Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon inGenetics in medicine open · 2026Article
- Case Report: Functional validation of aFrontiers in genetics · 2026Article
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.Renal failure · 2025Article
- Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.BMC nephrology · 2025Article
- Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Article
- PKD1 mutant clones within cirrhotic livers inhibit steatohepatitis without promoting cancer.Cell metabolism · 2024Article
- Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.BMC medical genomics · 2023Article
- Long-range PCR in next generation sequencing: A low cost approach for large & complex genes.The Indian journal of medical research · 2023Article
- Article
- PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.NPJ genomic medicine · 2022Article
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Heterogeneity of cell composition and origin identified by single-cell transcriptomics in renal cysts of patients with autosomal dominant polycystic kidney disease.Theranostics · 2021Article
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.PloS one · 2020Article
- Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Scientific reports · 2019Article
- Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2018Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic testing of PKD1 and PKD2 is useful for the diagnosis and prognosis of autosomal dominant polycystic kidney disease; however, analysis is complicated by the large transcript size, the complexity of the gene region, and the high level of gene variations. We developed a novel mutation screening assay for PKD1 by directly sequencing long-range (LR) PCR products. By using this method, the entire PKD1 coding region was amplified by nine reactions, generating product sizes from 2 to 6 kb, circumventing the need for specific PCR amplification of individual exons. This method was compared with direct sequencing used by a reference laboratory and the SURVEYOR-WAVE Nucleic Acid High Sensitivity Fragment Analysis System (Transgenomic) screening method for five patients with autosomal dominant polycystic kidney disease. A total of 53 heterozygous genetic changes were identified by LR PCR sequencing, including 41 (of 42) variations detected by SURVEYOR nuclease and all 32 variations reported by the reference laboratory, detecting an additional 12 intronic changes not identified by the other two methods. Compared with the reference laboratory, LR PCR sequencing had a sensitivity of 100%, a specificity of 98.5%, and an accuracy of 98.8%; compared with the SURVEYOR-WAVE method, it had a sensitivity of 97.1%, a specificity of 100%, and an accuracy of 99.4%. In conclusion, LR PCR sequencing was superior to the direct sequencing and screening methods for detecting genetic variations, achieving high sensitivity and improved intronic coverage with a faster turnaround time and lower costs, and providing a reliable tool for complex genetic analyses.
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