Prolidase deficiency is a rare autosomal recessive disorder caused by mutations in the prolidase gene, Peptidase D (PEPD). The patients show a wide range of clinical outcomes characterized mainly by chronic skin ulcers, mental retardation and recurrent respiratory infections. The c.793C>T (p.Arg265Ter) variant in exon 11 of the PEPD gene is the pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.793C>T variant.
1 - 2 weeks