Prolidase Deficiency (PEPD) Targeted Testing

Short Name: PEPD Targeted

Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the Prolidase gene, Peptidase D (PEPD). The patients show a wide range of clinical outcomes characterized mainly by chronic skin ulcers, intellectual delay 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.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 170100
MedGen: 120647