Genetic testing for Juvenile Polyposis Syndrome (JPS)
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder caused by mutations in the SMAD4 and BMPR1A genes. Juvenile polyps are hamartomatous lesions in the gastrointestinal (GI) tract with a distinct histological appearance of normal epithlium with cystic glands embedded in hyperplastic stroma and inflammatory infiltrate.
Juvenile polyps are typically benign, but in individuals with juvenile polyposis syndrome (JPS), there is risk for malignant transformation. Sequence and deletion/duplication analysis of the SMAD4 and BMPR1A genes, as offered at GeneDx, will identify a mutation in approximately 50% of individuals with a clinical diagnosis of JPS.