| Interpretive Data: |
Background Information for Juvenile Polyposis (SMAD4) Sequencing
Characteristics of Juvenile Polyposis Syndrome (JPS): Gastrointestinal (GI) bleeding, multiple hamartomatous polyps in the GI tract, increased risk for GI carcinoma.
Characteristics of JP/Hereditary Hemorrhagic Telangiectasia (HHT): Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), arteriovenous malformations (lung, brain, liver, spine) and hamartomatous polyps in the GI tract.
Incidence: 1 in 16,000 to 1 in 100,000 for JPS; unknown for JP/HHT.
Inheritance: Autosomal dominant; de novo mutations occur in 25 percent of JPS.
Penetrance: Suspected to be greater than 90 percent for JPS.
Cause for JPS: Mutations in SMAD4, BMPR1A, and other unknown genes.
Cause for JP/HHT: Mutations in SMAD4.
Clinical Sensitivity: Approximately 20 percent for JPS; unknown for JP/HHT.
Methodology: Bidirectional sequencing of the entire coding region and intron/exon boundaries of the SMAD4 gene.
Analytical Sensitivity and 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 SMAD4 will not be detected.
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 x12 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: |
SMAD4 (Juvenile Polyposis (SMAD4) Sequencing)
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