Next-generation Sequencing Better for Genetic Testing of AS, Study Finds

Next-generation sequencing (NGS) offers more advantages over conventional Sanger sequencing for the genetic testing of people who might have Alport syndrome (AS), a study has found. Both have a high diagnostic ability, but NGS can identify harmful mutations missed by Sanger sequencing and detect other inherited…

Mutations in Non-collagen Genes Can Worsen Alport-related Kidney Problems, Study Suggests

Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in combination with those in collagen IV (COL4) genes, can affect the clinical presentation and aggravate the severity of kidney problems linked to this disease, a study…