ARUP's Laboratory Test Directory

Juvenile Polyposis Syndrome (BMPR1A) Sequencing and Deletion/Duplication : 2004992
[ image for: Patient History for Juvenile Polyposis (JPS)/Hereditary Hemorrhagic Telangiectasia (HHT)]
Patient History for Juvenile Polyposis (JPS)/Hereditary Hemorrhagic Telangiectasia (HHT)
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: BMPR1A FGA

Ordering Recommendation: Diagnostic testing for juvenile polyposis syndrome. Predictive testing for juvenile polyposis syndrome.
Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: Within 35 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: Background Information for: Juvenile Polyposis Syndrome (BMPR1A) Sequencing and Deletion/Duplication:
Characteristics: Multiple juvenile (hamartomatous) polyps in the stomach, small intestine, colon, and rectum. Risk for colon cancer is 20 percent by age 35 and 70 percent by age 60.
Incidence: 1 in 16,000 to 100,000 individuals.
Inheritance: Autosomal dominant.
Penetrance: Greater than 90 percent for polyp development.
Cause: Pathogenic BMPR1A and SMAD4 mutations.
Clinical Sensitivity: Approximately 24 percent.
Methodology: Bidirectional sequencing of the entire BMPR1A coding region and intron-exon boundaries. Multiplex ligation-dependent probe amplification (MLPA) to detect large BMPR1A coding region deletions and duplications. BMPR1A exons 6 and 7 are not tested by MLPA.
Analytical Sensitivity & Specificity for Sequencing and MLPA: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Large deletions/duplications of exons 6 and 7 will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than BMPR1A are not evaluated.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81479 (2)
Cross References: BMPR1A (Juvenile Polyposis Syndrome (BMPR1A) Sequencing and Deletion/Duplication)