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GTR Home > Tests > Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (BMPR1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.

Conditions tested

Target population

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Polyposis, juvenile intestinal, 174900, Autosomal dominant (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Clinical utility

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Suggested reading

Consumer resources

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