| Interpretive Data: |
Background Information for: Juvenile Polyposis Syndrome (BMPR1A) Sequencing
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: 18 percent.
Methodology: Bidirectional sequencing of the entire BMPR1A coding region and intron-exon boundaries.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected. 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
BMPR1A (Juvenile Polyposis Syndrome (BMPR1A) Sequencing)
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