Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Abstract
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three COL4A5, COL4A3 and COL4A4 genes should be examined for pathogenic variants, probably by high throughput-targeted next generation sequencing (NGS) technologies, with a customised panel for simultaneous testing of the three Alport...
Paper Details
Title
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Published Date
Jul 9, 2018
Journal
Volume
34
Issue
7
Pages
1175 - 1189
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