Use

The test is essential for supporting the biochemical diagnosis of CLN1 and CLN2, which are two forms of neuronal ceroid lipofuscinoses (NCL). NCLs are a group of recessively inherited neurodegenerative disorders that involve lysosomal protein catabolism, characterized clinically by vision loss, seizures, developmental regression, and movement disorders. The specific forms CLN1 and CLN2 are caused by defects in palmitoyl-protein thioesterase 1 and tripeptidyl peptidase 1, respectively. This test is particularly useful for individuals with clinical signs suspicious for CLN1 or CLN2, providing initial enzymatic diagnostic screening. However, additional biochemical or molecular testing is necessary to confirm a diagnosis if an enzyme deficiency is detected.