2024
Clinical Genetic Testing in Nephrology: Core Curriculum 2024
Aron A, Dahl N. Clinical Genetic Testing in Nephrology: Core Curriculum 2024. American Journal Of Kidney Diseases 2024, 84: 632-645. PMID: 39340488, DOI: 10.1053/j.ajkd.2024.05.011.Peer-Reviewed Original ResearchClinical genetic testingGenetic testingRoutine diagnostic workup of patientsKidney diseaseDiagnostic workup of patientsDiagnostic yield of testingRoutine diagnostic workupWorkup of patientsRoutine nephrology careYield of testingGenetic resultsImprove careCore curriculumReduce barriersDiagnostic odysseyExtrarenal manifestationsDiagnostic yieldMonogenic etiologyPatient selectionReduce anxietyPatient populationNephrology careTreatment planningFamily planningSecondary findings
2022
A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology
Aron AW, Dahl NK, Besse W. A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology. Kidney360 2022, 3: 1640-1651. PMID: 36245662, PMCID: PMC9528385, DOI: 10.34067/kid.0007552021.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsClinical genetic testingGenetic testingIdentification of pathogenic variantsLimitations of genetic testingKidney-related disordersOut-of-pocket costsRisks of testingVariant nomenclatureProvider educationPathogenic variantsGene panelPatient's desireDiagnosis of kidney diseaseProvidersFollow-up investigationKidney diseaseDiagnostic utilityDiagnostic limitationsKidney disordersValuable diagnostic toolUnknown etiologyGenetic risk allelesUndetermined causeGuide managementDiagnosis