Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Autor:	Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, Lilian Johnstone
Rok vydání:	2021
Předmět:	Adult Proband medicine.medical_specialty Medical laboratory Article Internal medicine Exome Sequencing medicine Humans Exome Genetic Testing Child Genetics (clinical) Exome sequencing medicine.diagnostic_test business.industry genetic kidney disease Australia medicine.disease Human genetics Cohort Kidney Diseases Personalized medicine Renal biopsy business chronic kidney disease Kidney disease
Zdroj:	Genetics in Medicine
ISSN:	1098-3600
DOI:	10.1038/s41436-020-00963-4
Popis:	Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. Results ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ce68ae635ad6990da54397a9010d63 https://doi.org/10.1038/s41436-020-00963-4 Zobrazit plný text záznamu Full text from SpringerLink