In patients with Alport syndrome, molecular genetic diagnosis is usually performed by Sanger sequencing of three genes, namely, COL4A3, COL4A4 and COL4A5. These three genes together comprise of 153 exons, so performing Sanger sequencing is very laborious, time consuming and not a cost-effective approach for identifying the candidate variants. The gene discussed is COL4A4; the disease is Alport syndrome.