The CDL offers a core testing panel sequencing 3 genes involved in Alport syndrome.  Pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes, which code for type IV collagen, cause Alport syndrome. This panel is recommended for those individuals with possible autosomal recessive, autosomal dominant or X-linked Alport syndrome.  Genetic testing of COL4A5 as an individual gene is also offered for those families with clear X-linked inheritance pattern in their family.

Alport syndrome (AS) is a progressive glomerulonephritis characterized by kidney disease, hearing loss, and eye abnormalities. It has a prevalence of about 1 in 50,000 live births and may be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. The majority of affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys, and also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as the disease progresses, resulting in end-stage renal disease. Progressive sensorineural hearing loss during childhood or adolescence and ocular symptoms (including maculopathy, posterior polymorphous dystrophy, and recurrent corneal erosion) are common. Anterior lenticonus is considered to be virtually pathognomonic for Alport syndrome.