Clinical Diagnostics

SMAD4-BMPR1A

Juvenile polyposis syndrome (JPS) is a rare, inherited disease characterized by the presence of hamartomatous polyps in the gastrointestinal tract, typically in the stomach, small intestine, colon, and rectum. Juvenile refers to the developmentally immature nature of the polyp, not the patient age of disease onset. Polyps may cause gastrointestinal bleeding, abdominal pain and anemia. A diagnosis is made when an individual has any number of polyps and an affected family member, more than five polyps in the rectum or colon, or juvenile polyps in other parts of the gastrointestinal tract. In addition to polyposis, 10-20% of JPS patients also have extracolonic abnormalities such as congenital heart defects, cleft lip or palate, microcephaly and malrotations. These hamartomatous gastrointestinal polyps turn into malignant lesions (colorectal cancer) in approximately 20% of cases. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia may be present in about 20% of individuals with a SMAD4 mutation. The most common clinical symptom of hereditary hemorrhagic telangiectasia is spontaneous and recurrent nosebleeds. JPS occurs in approximately 1 in 100,000 individuals.

Available Tests
SMAD4/BMPR1A Sequencing

Documents
Test Information
Clinical Utility: - Confirmation of a clinical diagnosis of JPS or HHT.
- Identification of family members at-risk for JPS.
- Prenatal diagnosis in families with a known mutation.
Method: PCR Amplification followed by Capillary Sequencing
Ordering
Test ID: 2005, 2006
Turn-around Time: 2 Weeks
Preferred Specimen: Blood (2-5 mL whole blood in lavender top tube (EDTA)). Also accept buccal swabs.
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Billing
CPT Codes: 81479x1
Billing Information: View Billing Information
References
  1. Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. 2009. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin genet. 75:79-85.
  2. Chow E, Macrae F. 2005. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 20: 1634-40. Pubmed id: 16246179
  3. Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ. 2011. Juenile polyposis syndrome. World J Gastroenterol. 17:4839-44.
  4. Eng C, Hampel H, De La Chapelle A. 2001. Genetic Testing For Cancer Predisposition. Annu Rev Med. 52:371-400.
  5. Haidle JL and Howe JR. 2011. Juvenile Polyposis Syndrome. GeneReviews JPS
  6. Howe JR, et al. 2001. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 28: 184-7. PubMed ID: 11381269
  7. McDonald J and RE Pyeritz. 2012. Hereditary Hemorrhagic Telangiectasia. Gene Reviews.
  8. Juvenile polyposis syndrome. Genetics Home Reference.