Juvenile Polyposis syndrome Sequencing

Juvenile polyposis syndrome (JPS) is a syndrome characterized by the appearance of multiple polyps in the gastrointestinal tract, usually in a child, adolescent or young adults. While the majority of the polyps found in Juvenile Polyposis Syndrome are non-neoplastic, hamartomatous, self-limiting and benign, there is an increased risk of adenocarcinoma. Juvenile Polyposis Syndrome can occur sporadically in families or be inherited in an autosomal dominant manner.

Two genes associated with Juvenile Polyposis Syndrome are BMPR1A and SMAD4.

We provide sequencing for theSMAD 4 gene, chromosome locus 18q21.1.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Sequencing Requisition

CPT Codes: 81479 Cost: $978.00

Turn-around-time: 3-4 weeks