Use

This test is used to identify individuals with juvenile polyposis syndrome (JPS) by detecting single‑nucleotide variants, deletions, and duplications in the BMPR1A and SMAD4 genes, which encode the BMPR1A and SMAD4 proteins, respectively. It is generally indicated for individuals with a personal history of juvenile gastrointestinal polyps or a family history of JPS, with informed consent following genetic counseling strongly recommended. A positive result indicates a pathogenic or likely pathogenic variant in BMPR1A or SMAD4, suggesting a diagnosis of JPS and autosomal dominant inheritance risk; a negative result does not exclude JPS, and variant of uncertain significance (VUS) results require interpretation in clinical context.