A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.

ABSTRACT: Genetic testing is increasingly used in the workup and diagnosis of kidney disease and kidney-related disorders of undetermined cause. Out-of-pocket costs for clinical genetic testing have become affordable, and logistical hurdles overcome. The interest in genetic testing may stem from the need to make or confirm a diagnosis, guide management, or the patient's desire to have a more informed explanation or prognosis. This poses a challenge for providers who do not have formal training in the selection, interpretation, and limitations of genetic tests. In this manuscript, we provide detailed discussion of relevant cases in which clinical genetic testing using a kidney gene panel was applied. The cases demonstrate identification of pathogenic variants for monogenic diseases-contrasting them f

SUBMITTER: Aron AW 

PROVIDER: S-EPMC9528385 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature