Alport syndrome is a genetically heterogeneous disorder with autosomal dominant, autosomal recessive and X-linked inheritance. The estimated prevalence is about 1 in 50,000 live births. All forms are caused by mutations in the genes encoding type IV collagen, which is a basement membrane component. Alport syndrome is characterized by a progressive glomerulonephropathy, sensorineural hearing loss and various ocular anomalies. The X-linked form represents about 85% of Alport syndrome cases and is caused by mutations in the COL4A5 gene. About 15% of cases are autosomal recessive, while autosomal dominant inheritance is rare. Diffuse leiomyomatosis with Alport syndrome represents a contiguous gene deletion syndrome involving the COL4A5 and COL4A6 genes.

Connective Tissue Gene Tests Alport syndrome NGS panel consists of four genes: COL4A3, COL4A4, COL4A5 and COL4A6.

Copy number variation (CNV) analysis of the Alport syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.