A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Bullich, Gemma; Domingo-Gallego, Andrea; Vargas, Iván; Ruiz, Patricia; Lorente-Grandoso, Laura; Furlano, Mónica; Fraga, Gloria; Madrid, Álvaro; Ariceta, Gema; Borregán, Mar; Piñero-Fernández, Juan Alberto; Rodríguez-Peña, Lidia; Ballesta-Martínez, Maria Juliana; Llano-Rivas, Isabel; Meñica, Mireia Aguirre; Ballarín, José; Torrents, David; Torra, Roser; Ars, Elisabet

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Bullich, Gemma; Domingo-Gallego, Andrea; Vargas, Iván; Ruiz, Patricia; Lorente-Grandoso, Laura; Furlano, Mónica; Fraga, Gloria; Madrid, Álvaro; Ariceta, Gema; Borregán, Mar; Piñero-Fernández, Juan Alberto; Rodríguez-Peña, Lidia; Ballesta-Martínez, Maria Juliana; Llano-Rivas, Isabel; Meñica, Mireia Aguirre; Ballarín, José; Torrents, David; Torra, Roser; Ars, Elisabet.

Affiliation

Bullich G; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Inve
Domingo-Gallego A; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Inve
Vargas I; Informatics Department, Institut de diagnòstic per la imatge, Barcelona, Catalonia, Spain.
Ruiz P; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.
Lorente-Grandoso L; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.
Furlano M; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.
Fraga G; Pediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain.
Madrid Á; Pediatric Nephrology Department, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Ariceta G; Pediatric Nephrology Department, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Borregán M; Genetics Department, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Piñero-Fernández JA; Nephrology Department, Pediatrics Service, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
Rodríguez-Peña L; Clinical Genetics Department, Pediatrics Service, Hospital Universitario Virgen de la Arrixaca, Centre for Biomedical Research on Rare Diseases, Murcia, Spain.
Ballesta-Martínez MJ; Clinical Genetics Department, Pediatrics Service, Hospital Universitario Virgen de la Arrixaca, Centre for Biomedical Research on Rare Diseases, Murcia, Spain.
Llano-Rivas I; Genetics Department, Hospital Universitario Cruces, Biocruces Health Research Institute, Centre for Biomedical Research on Rare Diseases, Barakaldo-Bizkaia, Spain.
Meñica MA; Department of Pediatrics, Nephrology Unit, Hospital Universitario Cruces, Barakaldo-Bizkaia, Spain.
Ballarín J; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.
Torrents D; Barcelona Supercomputing Center, Joint Barcelona Supercomputing Center-Centre for Genomic Regulation (CRG)-Institute for Research in Biomedicine (IRB) Research Program in Computational Biology, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.
Torra R; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.
Ars E; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Inve

Kidney Int ; 94(2): 363-371, 2018 08.

Article in En | MEDLINE | ID: mdl-29801666

Subject(s)

Genetic Testing/methods; Nephritis, Hereditary/diagnosis; Polycystic Kidney, Autosomal Dominant/diagnosis; Prenatal Diagnosis/methods; Adolescent; Adult; Age of Onset; Aged; Child; Child, Preschool; Cohort Studies; Cost-Benefit Analysis; DNA Mutational Analysis/economics; DNA Mutational Analysis/methods; Feasibility Studies; Female; Genetic Testing/economics; High-Throughput Nucleotide Sequencing/economics; High-Throughput Nucleotide Sequencing/methods; Humans; Infant; Infant, Newborn; Kidney/pathology; Male; Middle Aged; Mutation; Nephritis, Hereditary/epidemiology; Nephritis, Hereditary/genetics; Nephritis, Hereditary/pathology; Phenotype; Polycystic Kidney, Autosomal Dominant/epidemiology; Polycystic Kidney, Autosomal Dominant/genetics; Polycystic Kidney, Autosomal Dominant/pathology; Pregnancy; Prenatal Diagnosis/economics; Prevalence; Young Adult

Key words

autosomal dominant polycystic kidney disease; ciliopathies; genetic testing; glomerulopathies; inherited kidney diseases; targeted next-generation sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prenatal Diagnosis / Genetic Testing / Polycystic Kidney, Autosomal Dominant / Nephritis, Hereditary Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: Kidney Int Year: 2018 Type: Article

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