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Juvenile Polyposis Syndrome (BMPR1A) Sequencing and Deletion/Duplication
2004992
Ordering Recommendation

Diagnostic testing for juvenile polyposis syndrome. Predictive testing for juvenile polyposis syndrome.

Mnemonic
BMPR1A FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
28-35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
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. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
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:
20-25 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.
Analytical Sensitivity & Specificity for Sequencing and MLPA:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Large deletions/duplications of exons 7 and 8 may not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than BMPR1A are not evaluated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
2004993JPS (BMPR1A) Seq, Del/Dup Specimen
2004994JPS (BMPR1A) Seq, Del/Dup Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • BMPR1A
  • BMPR1A sequencing and deletion/duplicatoin