{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:07:17Z","timestamp":1790816837312,"version":"4.1.0"},"reference-count":55,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T00:00:00Z","timestamp":1743379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario"},{"name":"Eugen Drewlo chair for Kidney Research and Innovation at the Schulich School of Medicine and Dentistry, University of Western Ontario"},{"name":"Academic Medical Organisation of Southwestern Ontario (AMOSO) Innovation Fund"},{"name":"Canadian Institute of Health Research (CIHR) Canada Graduate Scholar Masters Grant (CGSM)"},{"name":"Lawson Internal Research Fund (LIRF) Studentship"},{"name":"Dean\u2019s Research Scholarship at the Schulich School of medicine and Dentistry, University of Western Ontario"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged \u226550 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged \u226550 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and\/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50\u201354 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults \u226550 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults.<\/jats:p>","DOI":"10.3390\/genes16040408","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T05:10:07Z","timestamp":1743397807000},"page":"408","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0663-4528","authenticated-orcid":false,"given":"Clara","family":"Schott","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Alajmi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Bukhari","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney","family":"Relouw","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6759-0522","authenticated-orcid":false,"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St., London, ON N6A 3K7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7836-5187","authenticated-orcid":false,"given":"Adam D.","family":"McIntyre","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St., London, ON N6A 3K7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cadence","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Colaiacovo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Victoria Hospital, London Health Science Center, 800 Commissioners Rd E, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Campagnolo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Victoria Hospital, London Health Science Center, 800 Commissioners Rd E, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Almada Offerni","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G.","family":"Blake","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micheal","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cowan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit X.","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshman","family":"Gunaratnam","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"},{"name":"Multi-Organ Transplant Program, London Health Sciences Centre, London, ON N6A 5A5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"House","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih-Han Susan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hariharan","family":"Iyer","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arsh K.","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony M.","family":"Jevnikar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7604-8877","authenticated-orcid":false,"given":"Khaled","family":"Lotfy","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Moist","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faisal","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3908-1955","authenticated-orcid":false,"given":"Pavel S.","family":"Roshanov","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"},{"name":"Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"},{"name":"Population Health Research Institute, 20 Copeland Avenue, Hamilton, ON L8L 2X2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabil","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6736-603X","authenticated-orcid":false,"given":"Matthew A.","family":"Weir","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pari","family":"Basharat","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Rheumatology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Florendo-Cumbermack","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurological Sciences, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayyab","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Sciences, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0543-1534","authenticated-orcid":false,"given":"Jenny","family":"Thain","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Geriatric Medicine, Sciences, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3771-0949","authenticated-orcid":false,"given":"Kendrah","family":"Kidd","sequence":"additional","affiliation":[{"name":"Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, CZ-121 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Bleyer","sequence":"additional","affiliation":[{"name":"Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaspreet","family":"Bhangu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Geriatric Medicine, Sciences, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2861-5325","authenticated-orcid":false,"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St., London, ON N6A 3K7, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3466-6305","authenticated-orcid":false,"given":"Dervla M.","family":"Connaughton","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"},{"name":"Department of Medicine, Division of Nephrology, London Health Sciences Centre, London, ON N6A 5A5, Canada"},{"name":"Department of Medicine, Division of Nephrology, Schulich School of Medicine & Dentistry, Western University, 1151 Richmond St., London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1681\/ASN.0000000000000249","article-title":"The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease","volume":"34","author":"Dahl","year":"2023","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic Utility of Exome Sequencing for Kidney Disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/j.jacc.2020.06.037","article-title":"Identification of Undetected Monogenic Cardiovascular Disorders","volume":"76","author":"Abdulrahim","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e210273","DOI":"10.1212\/WNL.0000000000210273","article-title":"Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic","volume":"104","author":"Hulsman","year":"2025","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1007\/s00415-019-09358-1","article-title":"Multi-gene testing in neurological disorders showed an improved diagnostic yield: Data from over 1000 Indian patients","volume":"266","author":"Ganapathy","year":"2019","journal-title":"J. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2215\/CJN.0000000000000564","article-title":"Utility of Genetic Testing in Adults with Chronic Kidney Disease: A Systematic Review and Meta-Analysis","volume":"20","author":"Schott","year":"2024","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"20543581211055001","DOI":"10.1177\/20543581211055001","article-title":"Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease","volume":"8","author":"Elliott","year":"2021","journal-title":"Can. J. Kidney Health Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.ajt.2024.10.019","article-title":"Evaluation for genetic disease in kidney transplant candidates: A practice resource","volume":"25","author":"Ames","year":"2025","journal-title":"Am. J. Transplant."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.34067\/KID.0007552021","article-title":"A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology","volume":"3","author":"Aron","year":"2022","journal-title":"Kidney360"},{"key":"ref_10","unstructured":"National Health Services England (2024, March 26). National Genomic Test Directory Testing Criteria for Rare and Inherited Disease. Available online: https:\/\/www.england.nhs.uk\/wp-content\/uploads\/2024\/07\/national-genomic-test-directory-rare-and-inherited-disease-eligibility-criteria-v7.pdf."},{"key":"ref_11","unstructured":"(2018). Guidelines for Genetic Diagnostics in Kidney Disease, MEDonline Publisher. Available online: https:\/\/publicatie.nefro.nl\/richtlijnen\/handreiking-genetische-diagnostiek-bij-nierziekten\/."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1093\/ndt\/gfaa363","article-title":"Genetics-first approach improves diagnostics of ESKD patients <50 years old","volume":"37","author":"Snoek","year":"2022","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/nrneph.2015.205","article-title":"Exploring the genetic basis of early-onset chronic kidney disease","volume":"12","author":"Vivante","year":"2016","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ekir.2024.11.004","article-title":"Implementation of a kidney genetic service into the diagnostic pathway for patients with chronic kidney disease in Canada","volume":"10","author":"Schott","year":"2025","journal-title":"Kidney Int. Rep."},{"key":"ref_15","unstructured":"KDIGO Conference Participants (2022). Genetics in chronic kidney disease: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int., 101, 1126\u20131141."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(10)60236-X","article-title":"Genetic kidney diseases","volume":"375","author":"Hildebrandt","year":"2010","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"E612","DOI":"10.1503\/cmaj.221427","article-title":"An approach to treating older adults with chronic kidney disease","volume":"195","author":"Merchant","year":"2023","journal-title":"CMAJ"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1111\/j.1523-1755.2005.00365.x","article-title":"Definition and classification of chronic kidney disease: A position statement from Kidney Disease: Improving Global Outcomes (KDIGO)","volume":"67","author":"Levey","year":"2005","journal-title":"Kidney Int."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1053\/j.ajkd.2018.03.019","article-title":"Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1","volume":"72","author":"Ayasreh","year":"2018","journal-title":"Am. J. Kidney Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.jmoldx.2016.03.003","article-title":"Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease","volume":"18","author":"Blumenstiel","year":"2016","journal-title":"J. Mol. Diagn."},{"key":"ref_21","unstructured":"Szuto, A. (2024, July 15). Genome-Wide Sequencing Ontario. 2023. Provincial Update: Exome Sequencing for Rare Disease Diagnostics. Available online: https:\/\/gsontario.ca\/for-providers\/patient-eligibility\/."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/clinchem\/hvae183","article-title":"Virtual Gene Panels Have a Superior Diagnostic Yield for Inherited Rare Diseases Relative to Static Panels","volume":"71","author":"Jain","year":"2025","journal-title":"Clin. Chem."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/s41525-020-00164-7","article-title":"Clinical utility of genomic sequencing: A measurement toolkit","volume":"5","author":"Hayeems","year":"2020","journal-title":"NPJ Genom. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1186\/s13023-023-02882-4","article-title":"The International X-Linked Hypophosphatemia (XLH) Registry: First interim analysis of baseline demographic, genetic and clinical data","volume":"18","author":"Ariceta","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s00431-007-0662-1","article-title":"What\u2019s new in hypophosphataemic rickets?","volume":"167","author":"Pettifor","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"luad082","DOI":"10.1210\/jcemcr\/luad082","article-title":"A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia","volume":"1","author":"Kayser","year":"2023","journal-title":"JCEM Case Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1007\/s00198-021-05997-1","article-title":"Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review","volume":"32","author":"Giannini","year":"2021","journal-title":"Osteoporos. Int."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","volume":"15","author":"Haffner","year":"2019","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1016\/j.nephro.2017.01.014","article-title":"Mitochondrial cytopathies and the kidney","volume":"13","author":"Emma","year":"2017","journal-title":"Nephrol. Ther."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"31341","DOI":"10.1074\/jbc.M506762200","article-title":"The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit","volume":"280","author":"Chan","year":"2005","journal-title":"J. Biol. Chem."},{"key":"ref_32","first-page":"1380","article-title":"Patient care standards for primary mitochondrial disease: A consensus statement from the Mitochondrial Medicine Society","volume":"19","author":"Parikh","year":"2017","journal-title":"Genet. Med."},{"key":"ref_33","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., and Amemiya, A. (2024, May 28). POLG-Related Disorders, GeneReviews\u00ae, Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK26471\/."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(18)32782-X","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Alam","year":"2019","journal-title":"Lancet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/cge.13249","article-title":"Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1\/2 in adult sporadic polycystic kidney disease","volume":"94","author":"Fujimaru","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.ajhg.2021.11.016","article-title":"Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype","volume":"109","author":"Senum","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"ref_37","unstructured":"Nu\u00f1ez Zuno, J.A., and Khaddour, K. (2024, July 10). Thrombotic Thrombocytopenic Purpura Evaluation and Management, StatPearls, Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK470585\/."},{"key":"ref_38","first-page":"731","article-title":"The kidney in thrombotic thrombocytopenic purpura","volume":"98","author":"Tsai","year":"2007","journal-title":"Minerva Med."},{"key":"ref_39","first-page":"34","article-title":"Anemia and Thrombocytopenia in Acute and Chronic Renal Failure","volume":"7","author":"Dorgalaleh","year":"2013","journal-title":"Int. J. Hematol.-Oncol. Stem Cell Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.c.32008","article-title":"Autosomal dominant tubulointerstitial kidney disease: A review","volume":"190","author":"Kidd","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.kint.2023.11.021","article-title":"Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis","volume":"105","author":"Kidd","year":"2024","journal-title":"Kidney Int."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"100814","DOI":"10.1016\/j.gim.2023.100814","article-title":"The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists","volume":"25","author":"Rasouly","year":"2023","journal-title":"Genet. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1016\/j.xkme.2021.08.006","article-title":"Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists","volume":"3","author":"Mrug","year":"2021","journal-title":"Kidney Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.cell.2019.07.002","article-title":"Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy","volume":"178","author":"Emani","year":"2019","journal-title":"Cell"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ekir.2020.10.030","article-title":"Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics","volume":"6","author":"Jayasinghe","year":"2021","journal-title":"Kidney Int. Rep."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.kint.2018.10.031","article-title":"Monogenic causes of chronic kidney disease in adults","volume":"95","author":"Connaughton","year":"2019","journal-title":"Kidney Int."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"100","DOI":"10.7326\/M17-1319","article-title":"Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study","volume":"168","author":"Lata","year":"2018","journal-title":"Ann. Intern. Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/ki.2015.317","article-title":"Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity","volume":"89","author":"Braun","year":"2016","journal-title":"Kidney Int."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.2105\/AJPH.2019.305123","article-title":"Interventions to Reduce Ageism Against Older Adults: A Systematic Review and Meta-Analysis","volume":"109","author":"Burnes","year":"2019","journal-title":"Am. J. Public Health"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1007\/s40620-024-01964-1","article-title":"A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure","volume":"37","author":"Beal","year":"2024","journal-title":"J. Nephrol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1093\/ndt\/gfab218","article-title":"Genetic testing in the diagnosis of chronic kidney disease: Recommendations for clinical practice","volume":"37","author":"Knoers","year":"2022","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"527","DOI":"10.2215\/CJN.06380613","article-title":"Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1","volume":"9","author":"Bleyer","year":"2014","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Dusic, E.J., Theoryn, T., Wang, C., Swisher, E.M., and Bowen, D.J. (2022). Barriers, interventions, and recommendations: Improving the genetic testing landscape. Front. Digit. Health, 4.","DOI":"10.3389\/fdgth.2022.961128"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"148731","DOI":"10.1016\/j.gene.2024.148731","article-title":"Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6","volume":"927","author":"Schott","year":"2024","journal-title":"Gene"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"20543581241242562","DOI":"10.1177\/20543581241242562","article-title":"Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings","volume":"11","author":"Schott","year":"2024","journal-title":"Can. J. Kidney Health Dis."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/4\/408\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:06:19Z","timestamp":1760029579000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/4\/408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,31]]},"references-count":55,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["genes16040408"],"URL":"https:\/\/doi.org\/10.3390\/genes16040408","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,31]]}}}